Canonical Allele Identifier: CA393164481
Gene: CYP1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720730A>G , CM000677.2:g.74720730A>G GRCh38
NC_000015.9:g.75013071A>G , CM000677.1:g.75013071A>G GRCh37
NC_000015.8:g.72800124A>G NCBI36
NG_008431.1:g.3189A>G
NG_008431.2:g.3189A>G
NG_061374.1:g.9799T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1298T>C MANE Select ENSP00000369050.3:p.Leu433Pro
ENST00000379727.7:c.1298T>C ENSP00000369050.3:p.Leu433Pro
ENST00000395048.6:c.1298T>C ENSP00000378488.2:p.Leu433Pro
ENST00000395049.8:c.1211T>C ENSP00000378489.4:p.Leu404Pro
ENST00000562201.5:c.*535T>C ENSP00000455340.1:n.*535T>C
ENST00000564596.5:c.*233T>C ENSP00000457668.1:n.*233T>C
ENST00000566503.1:c.515T>C ENSP00000455846.1:p.Leu172Pro
ENST00000567032.5:c.1298T>C ENSP00000456585.1:p.Leu433Pro
ENST00000569630.5:c.*887T>C ENSP00000455051.1:n.*887T>C
ENST00000612821.4:c.1214T>C ENSP00000479744.1:p.Leu405Pro
ENST00000617691.4:c.1211T>C ENSP00000482863.1:p.Leu404Pro
NM_000499.3:c.1298T>C NP_000490.1:p.Leu433Pro
XM_005254185.1:c.1298T>C XP_005254242.1:p.Leu433Pro
NM_000499.5:c.1298T>C NP_000490.1:p.Leu433Pro
NM_001319216.2:c.1211T>C NP_001306145.1:p.Leu404Pro
NM_001319217.2:c.1298T>C MANE Select NP_001306146.1:p.Leu433Pro