ClinVar

NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)

Genes:

POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]
SLC29A1:solute carrier family 29 member 1 (Augustine blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 44227333 (on Assembly GRCh38)
• Chr6: 44195070 (on Assembly GRCh37)

Preferred name:

NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)

HGVS:

• NC_000006.12:g.44227333C>T
• NG_042893.1:g.12829C>T
• NM_001078175.3:c.20C>T
• NM_001078177.2:c.20C>T
• NM_001304462.2:c.257C>T
• NM_001304465.2:c.98C>T
• NM_001304466.2:c.95C>T
• NM_001372327.1:c.20C>TMANE SELECT
• NP_001071643.1:p.Pro7Leu
• NP_001071645.1:p.Pro7Leu
• NP_001291391.1:p.Pro86Leu
• NP_001291394.1:p.Pro33Leu
• NP_001291395.1:p.Pro32Leu
• NP_001359256.1:p.Pro7Leu
• LRG_1027t1:c.20C>T
• LRG_1027:g.12829C>T
• LRG_1027p1:p.Pro7Leu
• NC_000006.11:g.44195070C>T

This HGVS expression did not pass validation

Protein change:

P32L

Links:

dbSNP: rs1582941569

NCBI 1000 Genomes Browser:

rs1582941569

Molecular consequence:

• NM_001078175.3:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001078177.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304462.2:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304465.2:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304466.2:c.95C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372327.1:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]