ClinVar

NM_001319217.2(CYP1A1):c.1357G>C (p.Gly453Arg)

Gene:

CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74720671 (on Assembly GRCh38)
• Chr15: 75013012 (on Assembly GRCh37)

Preferred name:

NM_001319217.2(CYP1A1):c.1357G>C (p.Gly453Arg)

HGVS:

• NC_000015.10:g.74720671C>G
• NG_008431.2:g.3130C>G
• NG_061374.1:g.9858G>C
• NM_000499.5:c.1357G>C
• NM_001319216.2:c.1270G>C
• NM_001319217.2:c.1357G>CMANE SELECT
• NP_000490.1:p.Gly453Arg
• NP_000490.1:p.Gly453Arg
• NP_001306145.1:p.Gly424Arg
• NP_001306145.1:p.Gly424Arg
• NP_001306146.1:p.Gly453Arg
• NP_001306146.1:p.Gly453Arg
• LRG_1262t1:c.1357G>C
• LRG_1262:g.9858G>C
• LRG_1262p1:p.Gly453Arg
• NC_000015.9:g.75013012C>G
• NM_000499.3:c.1357G>C
• NM_000499.4:c.1357G>C
• NM_001319216.1:c.1270G>C
• NM_001319217.1:c.1357G>C

This HGVS expression did not pass validation

Protein change:

G424R

Molecular consequence:

• NM_000499.5:c.1357G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319216.2:c.1270G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319217.2:c.1357G>C - missense variant - [Sequence Ontology: SO:0001583]