ClinVar

NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)

Gene:

SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.13

Genomic location:

• Chr14: 94378610 (on Assembly GRCh38)
• Chr14: 94844947 (on Assembly GRCh37)

Preferred name:

NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)

Other names:

E342K; Z allele; PI Z(AUGSBURG); PI Z(TUN); PI*Z; SERPINA1, GLU342LYS ON M1A; SERPINA1, GLU342LYS ON M2; Z; p.E366K

HGVS:

• NC_000014.9:g.94378610C>T
• NG_008290.1:g.17083G>A
• NM_000295.5:c.1096G>AMANE SELECT
• NM_001002235.3:c.1096G>A
• NM_001002236.3:c.1096G>A
• NM_001127700.2:c.1096G>A
• NM_001127701.2:c.1096G>A
• NM_001127702.2:c.1096G>A
• NM_001127703.2:c.1096G>A
• NM_001127704.2:c.1096G>A
• NM_001127705.2:c.1096G>A
• NM_001127706.2:c.1096G>A
• NM_001127707.2:c.1096G>A
• NP_000286.3:p.Glu366Lys
• NP_000286.3:p.Glu366Lys
• NP_001002235.1:p.Glu366Lys
• NP_001002236.1:p.Glu366Lys
• NP_001121172.1:p.Glu366Lys
• NP_001121173.1:p.Glu366Lys
• NP_001121173.1:p.Glu366Lys
• NP_001121174.1:p.Glu366Lys
• NP_001121175.1:p.Glu366Lys
• NP_001121176.1:p.Glu366Lys
• NP_001121177.1:p.Glu366Lys
• NP_001121178.1:p.Glu366Lys
• NP_001121179.1:p.Glu366Lys
• LRG_575t1:c.1096G>A
• LRG_575:g.17083G>A
• LRG_575p1:p.Glu366Lys
• NC_000014.8:g.94844947C>T
• NM_000295.4:c.1096G>A
• NM_000295.5:c.1096G>A
• NM_001002235.2:c.1096G>A
• NM_001127701.1:c.1096G>A
• P01009:p.Glu366Lys

This HGVS expression did not pass validation

Protein change:

E366K; Glu342Lys

Links:

Genetic Testing Registry (GTR): GTR000006840; UniProtKB: P01009#VAR_007004; OMIM: 107400.0011; OMIM: 107400.0028; dbSNP: rs28929474

NCBI 1000 Genomes Browser:

rs28929474

Molecular consequence:

• NM_000295.5:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002235.3:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002236.3:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127700.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127701.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127702.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127703.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127704.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127705.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127706.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127707.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

effect on catalytic protein function [Variation Ontology: 0008]