Canonical Allele Identifier: CA7659233

Gene: CYP1A1

Linked Data

• dbSNP Id: rs774927292
• ExAC: 15:75012967 AGACCTCC / A
• gnomAD v2: 15-75012967-AGACCTCC-A
• gnomAD v4: 15-74720626-AGACCTCC-A
• MyVariant Identifiers: chr15:g.75012968_75012974del (hg19) ; chr15:g.74720627_74720633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720627_74720633del , CM000677.2:g.74720627_74720633del	GRCh38
NC_000015.9:g.75012968_75012974del , CM000677.1:g.75012968_75012974del	GRCh37
NC_000015.8:g.72800021_72800027del	NCBI36
NG_008431.1:g.3086_3092del
NG_008431.2:g.3086_3092del
NG_061374.1:g.9896_9902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1395_1401del MANE Select	ENSP00000369050.3:p.Trp465CysfsTer20
ENST00000379727.7:c.1395_1401del	ENSP00000369050.3:p.Trp465CysfsTer20
ENST00000395048.6:c.1395_1401del	ENSP00000378488.2:p.Trp465CysfsTer20
ENST00000395049.8:c.1308_1314del	ENSP00000378489.4:p.Trp436CysfsTer20
ENST00000567032.5:c.1395_1401del	ENSP00000456585.1:p.Trp465CysfsTer20
ENST00000612821.4:c.1311_1317del	ENSP00000479744.1:p.Trp437CysfsTer20
ENST00000617691.4:c.1308_1314del	ENSP00000482863.1:p.Trp436CysfsTer20
NM_000499.3:c.1395_1401del	NP_000490.1:p.Trp465CysfsTer20
XM_005254185.1:c.1395_1401del	XP_005254242.1:p.Trp465CysfsTer20
NM_000499.5:c.1395_1401del	NP_000490.1:p.Trp465CysfsTer20
NM_001319216.2:c.1308_1314del	NP_001306145.1:p.Trp436CysfsTer20
NM_001319217.2:c.1395_1401del MANE Select	NP_001306146.1:p.Trp465CysfsTer20