Canonical Allele Identifier: CA1619770

Gene: CYP1B1

Linked Data

• dbSNP Id: rs775735969
• ExAC: 2:38298011 T / C
• gnomAD v2: 2-38298011-T-C
• MyVariant Identifiers: chr2:g.38298011T>C (hg19) ; chr2:g.38070868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070868T>C , CM000664.2:g.38070868T>C	GRCh38
NC_000002.11:g.38298011T>C , CM000664.1:g.38298011T>C	GRCh37
NC_000002.10:g.38151515T>C	NCBI36
NG_008386.2:g.10234A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1486A>G	ENSP00000478839.2:p.Asn496Asp
ENST00000610745.5:c.1486A>G MANE Select	ENSP00000478561.1:p.Asn496Asp
ENST00000494864.1:c.373A>G	ENSP00000479876.1:p.Asn125Asp
ENST00000610745.4:c.1486A>G	ENSP00000478561.1:p.Asn496Asp
ENST00000614273.1:c.1486A>G	ENSP00000483678.1:p.Asn496Asp
NM_000104.3:c.1486A>G	NP_000095.2:p.Asn496Asp
NM_000104.4:c.1486A>G MANE Select	NP_000095.2:p.Asn496Asp