Canonical Allele Identifier: CA7659229

Gene: CYP1A1

Linked Data

• dbSNP Id: rs759921335
• ExAC: 15:75012955 C / CAA
• gnomAD v2: 15-75012955-C-CAA
• gnomAD v4: 15-74720614-C-CAA
• MyVariant Identifiers: chr15:g.75012955_75012956insAA (hg19) ; chr15:g.74720614_74720615insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720614_74720615insAA , CM000677.2:g.74720614_74720615insAA	GRCh38
NC_000015.9:g.75012955_75012956insAA , CM000677.1:g.75012955_75012956insAA	GRCh37
NC_000015.8:g.72800008_72800009insAA	NCBI36
NG_008431.1:g.3073_3074insAA
NG_008431.2:g.3073_3074insAA
NG_061374.1:g.9914_9915insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1413_1414insTT MANE Select	ENSP00000369050.3:p.Ala472LeufsTer16
ENST00000379727.7:c.1413_1414insTT	ENSP00000369050.3:p.Ala472LeufsTer16
ENST00000395048.6:c.1413_1414insTT	ENSP00000378488.2:p.Ala472LeufsTer16
ENST00000395049.8:c.1326_1327insTT	ENSP00000378489.4:p.Ala443LeufsTer16
ENST00000567032.5:c.1413_1414insTT	ENSP00000456585.1:p.Ala472LeufsTer16
ENST00000612821.4:c.1329_1330insTT	ENSP00000479744.1:p.Ala444LeufsTer16
ENST00000617691.4:c.1326_1327insTT	ENSP00000482863.1:p.Ala443LeufsTer16
NM_000499.3:c.1413_1414insTT	NP_000490.1:p.Ala472LeufsTer16
XM_005254185.1:c.1413_1414insTT	XP_005254242.1:p.Ala472LeufsTer16
NM_000499.5:c.1413_1414insTT	NP_000490.1:p.Ala472LeufsTer16
NM_001319216.2:c.1326_1327insTT	NP_001306145.1:p.Ala443LeufsTer16
NM_001319217.2:c.1413_1414insTT MANE Select	NP_001306146.1:p.Ala472LeufsTer16