Canonical Allele Identifier: CA393164543
Gene: CYP1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720746G>T , CM000677.2:g.74720746G>T GRCh38
NC_000015.9:g.75013087G>T , CM000677.1:g.75013087G>T GRCh37
NC_000015.8:g.72800140G>T NCBI36
NG_008431.1:g.3205G>T
NG_008431.2:g.3205G>T
NG_061374.1:g.9783C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1282C>A MANE Select ENSP00000369050.3:p.Leu428Ile
ENST00000379727.7:c.1282C>A ENSP00000369050.3:p.Leu428Ile
ENST00000395048.6:c.1282C>A ENSP00000378488.2:p.Leu428Ile
ENST00000395049.8:c.1195C>A ENSP00000378489.4:p.Leu399Ile
ENST00000562201.5:c.*519C>A ENSP00000455340.1:n.*519C>A
ENST00000564596.5:c.*217C>A ENSP00000457668.1:n.*217C>A
ENST00000566503.1:c.499C>A ENSP00000455846.1:p.Leu167Ile
ENST00000567032.5:c.1282C>A ENSP00000456585.1:p.Leu428Ile
ENST00000569630.5:c.*871C>A ENSP00000455051.1:n.*871C>A
ENST00000612821.4:c.1198C>A ENSP00000479744.1:p.Leu400Ile
ENST00000617691.4:c.1195C>A ENSP00000482863.1:p.Leu399Ile
NM_000499.3:c.1282C>A NP_000490.1:p.Leu428Ile
XM_005254185.1:c.1282C>A XP_005254242.1:p.Leu428Ile
NM_000499.5:c.1282C>A NP_000490.1:p.Leu428Ile
NM_001319216.2:c.1195C>A NP_001306145.1:p.Leu399Ile
NM_001319217.2:c.1282C>A MANE Select NP_001306146.1:p.Leu428Ile