Canonical Allele Identifier: CA7659265

Gene: CYP1A1

Linked Data

• dbSNP Id: rs753423324
• ExAC: 15:75013063 CA / C
• gnomAD v2: 15-75013063-CA-C
• gnomAD v3: 15-74720722-CA-C
• gnomAD v4: 15-74720722-CA-C
• MyVariant Identifiers: chr15:g.75013064del (hg19) ; chr15:g.74720723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720723del , CM000677.2:g.74720723del	GRCh38
NC_000015.9:g.75013064del , CM000677.1:g.75013064del	GRCh37
NC_000015.8:g.72800117del	NCBI36
NG_008431.1:g.3182del
NG_008431.2:g.3182del
NG_061374.1:g.9806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1305del MANE Select	ENSP00000369050.3:p.Asp436MetfsTer8
ENST00000379727.7:c.1305del	ENSP00000369050.3:p.Asp436MetfsTer8
ENST00000395048.6:c.1305del	ENSP00000378488.2:p.Asp436MetfsTer8
ENST00000395049.8:c.1218del	ENSP00000378489.4:p.Asp407MetfsTer8
ENST00000562201.5:c.*542del	ENSP00000455340.1:n.*542del
ENST00000564596.5:c.*240del	ENSP00000457668.1:n.*240del
ENST00000566503.1:c.522del	ENSP00000455846.1:p.Pro174=
ENST00000567032.5:c.1305del	ENSP00000456585.1:p.Asp436MetfsTer8
ENST00000569630.5:c.*894del	ENSP00000455051.1:n.*894del
ENST00000612821.4:c.1221del	ENSP00000479744.1:p.Asp408MetfsTer8
ENST00000617691.4:c.1218del	ENSP00000482863.1:p.Asp407MetfsTer8
NM_000499.3:c.1305del	NP_000490.1:p.Asp436MetfsTer8
XM_005254185.1:c.1305del	XP_005254242.1:p.Asp436MetfsTer8
NM_000499.5:c.1305del	NP_000490.1:p.Asp436MetfsTer8
NM_001319216.2:c.1218del	NP_001306145.1:p.Asp407MetfsTer8
NM_001319217.2:c.1305del MANE Select	NP_001306146.1:p.Asp436MetfsTer8