Canonical Allele Identifier: CA619412588

Gene: CYP1A1

Linked Data

• dbSNP Id: rs1465828828
• gnomAD v2: 15-75012883-G-GC
• gnomAD v3: 15-74720542-G-GC
• gnomAD v4: 15-74720542-G-GC
• MyVariant Identifiers: chr15:g.75012883_75012884insC (hg19) ; chr15:g.74720542_74720543insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720545dup , CM000677.2:g.74720545dup	GRCh38
NC_000015.9:g.75012886dup , CM000677.1:g.75012886dup	GRCh37
NC_000015.8:g.72799939dup	NCBI36
NG_008431.1:g.3004dup
NG_008431.2:g.3004dup
NG_061374.1:g.9986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1485dup MANE Select	ENSP00000369050.3:p.Leu496AlafsTer9
ENST00000379727.7:c.1485dup	ENSP00000369050.3:p.Leu496AlafsTer9
ENST00000395048.6:c.1485dup	ENSP00000378488.2:p.Leu496AlafsTer9
ENST00000395049.8:c.1398dup	ENSP00000378489.4:p.Leu467AlafsTer9
ENST00000567032.5:c.1485dup	ENSP00000456585.1:p.Leu496AlafsTer9
ENST00000612821.4:c.1401dup	ENSP00000479744.1:p.Leu468AlafsTer9
ENST00000617691.4:c.1398dup	ENSP00000482863.1:p.Leu467AlafsTer9
NM_000499.3:c.1485dup	NP_000490.1:p.Leu496AlafsTer9
XM_005254185.1:c.1485dup	XP_005254242.1:p.Leu496AlafsTer9
NM_000499.5:c.1485dup	NP_000490.1:p.Leu496AlafsTer9
NM_001319216.2:c.1398dup	NP_001306145.1:p.Leu467AlafsTer9
NM_001319217.2:c.1485dup MANE Select	NP_001306146.1:p.Leu496AlafsTer9