Canonical Allele Identifier: CA7659246

Gene: CYP1A1

Linked Data

• ClinVar Variation Id: 3048416
• ClinVar RCV Id: RCV003952173
• dbSNP Id: rs561096394
• ExAC: 15:75012997 TA / T
• gnomAD v2: 15-75012997-TA-T
• gnomAD v3: 15-74720656-TA-T
• gnomAD v4: 15-74720656-TA-T
• MyVariant Identifiers: chr15:g.75012998del (hg19) ; chr15:g.74720657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720657del , CM000677.2:g.74720657del	GRCh38
NC_000015.9:g.75012998del , CM000677.1:g.75012998del	GRCh37
NC_000015.8:g.72800051del	NCBI36
NG_008431.1:g.3116del
NG_008431.2:g.3116del
NG_061374.1:g.9872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1371del MANE Select	ENSP00000369050.3:p.Cys457Ter
ENST00000379727.7:c.1371del	ENSP00000369050.3:p.Cys457Ter
ENST00000395048.6:c.1371del	ENSP00000378488.2:p.Cys457Ter
ENST00000395049.8:c.1284del	ENSP00000378489.4:p.Cys428Ter
ENST00000567032.5:c.1371del	ENSP00000456585.1:p.Cys457Ter
ENST00000612821.4:c.1287del	ENSP00000479744.1:p.Cys429Ter
ENST00000617691.4:c.1284del	ENSP00000482863.1:p.Cys428Ter
NM_000499.3:c.1371del	NP_000490.1:p.Cys457Ter
XM_005254185.1:c.1371del	XP_005254242.1:p.Cys457Ter
NM_000499.5:c.1371del	NP_000490.1:p.Cys457Ter
NM_001319216.2:c.1284del	NP_001306145.1:p.Cys428Ter
NM_001319217.2:c.1371del MANE Select	NP_001306146.1:p.Cys457Ter