Canonical Allele Identifier: CA7659242
Gene: CYP1A1 HGNC NCBI
COSMIC:
COSM3754467 (not active)
MyVariant.info:
GRCh38 chr15:g.74720646G>T
GRCh37 chr15:g.75012987G>T
Revel Score:
ENST00000379727 (MANE Select) 0.118
ENST00000395048 0.118
ENST00000395049 0.118
ENST00000268062 0.118
gnomAD v2:
15:75012987 G / T
gnomAD v3:
15:74720646 G / T
gnomAD v4:
chr15-74720646-G-T
Joint Max Group AF 0.11758286 (MID)
Genomes Max Group AF 0.04176364 (NFE)
Exomes Max Group AF 0.11752359 (MID)
ClinVar RCV:
RCV003972309
ClinVar Variation:
3056253
dbSNP:
1799814
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720646G>T , CM000677.2:g.74720646G>T GRCh38
NC_000015.9:g.75012987G>T , CM000677.1:g.75012987G>T GRCh37
NC_000015.8:g.72800040G>T NCBI36
NG_008431.1:g.3105G>T
NG_008431.2:g.3105G>T
NG_061374.1:g.9883C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1382C>A MANE Select ENSP00000369050.3:p.Thr461Asn
ENST00000379727.7:c.1382C>A ENSP00000369050.3:p.Thr461Asn
ENST00000395048.6:c.1382C>A ENSP00000378488.2:p.Thr461Asn
ENST00000395049.8:c.1295C>A ENSP00000378489.4:p.Thr432Asn
ENST00000567032.5:c.1382C>A ENSP00000456585.1:p.Thr461Asn
ENST00000612821.4:c.1298C>A ENSP00000479744.1:p.Thr433Asn
ENST00000617691.4:c.1295C>A ENSP00000482863.1:p.Thr432Asn
NM_000499.3:c.1382C>A NP_000490.1:p.Thr461Asn
XM_005254185.1:c.1382C>A XP_005254242.1:p.Thr461Asn
NM_000499.5:c.1382C>A NP_000490.1:p.Thr461Asn
NM_001319216.2:c.1295C>A NP_001306145.1:p.Thr432Asn
NM_001319217.2:c.1382C>A MANE Select NP_001306146.1:p.Thr461Asn
Search 100 bp 5'
Search 100 bp 3'