Canonical Allele Identifier: CA1620084

Gene: CYP1B1

Linked Data

• dbSNP Id: rs747443528
• ExAC: 2:38302317 A / T
• gnomAD v2: 2-38302317-A-T
• gnomAD v4: 2-38075174-A-T
• MyVariant Identifiers: chr2:g.38302317A>T (hg19) ; chr2:g.38075174A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075174A>T , CM000664.2:g.38075174A>T	GRCh38
NC_000002.11:g.38302317A>T , CM000664.1:g.38302317A>T	GRCh37
NC_000002.10:g.38155821A>T	NCBI36
NG_008386.2:g.5928T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.215T>A	ENSP00000478839.2:p.Leu72His
ENST00000610745.5:c.215T>A MANE Select	ENSP00000478561.1:p.Leu72His
ENST00000490576.1:c.215T>A	ENSP00000478839.1:p.Leu72His
ENST00000494864.1:c.-70-3864T>A	ENSP00000479876.1:n.-70-3864T>A
ENST00000610745.4:c.215T>A	ENSP00000478561.1:p.Leu72His
ENST00000613082.1:n.375+606T>A
ENST00000614273.1:c.215T>A	ENSP00000483678.1:p.Leu72His
NM_000104.3:c.215T>A	NP_000095.2:p.Leu72His
NM_000104.4:c.215T>A MANE Select	NP_000095.2:p.Leu72His