Canonical Allele Identifier: CA346329638

Gene: CYP1B1

Linked Data

• dbSNP Id: rs2125316369
• gnomAD v4: 2-38075142-C-T
• MyVariant Identifiers: chr2:g.38302285C>T (hg19) ; chr2:g.38075142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075142C>T , CM000664.2:g.38075142C>T	GRCh38
NC_000002.11:g.38302285C>T , CM000664.1:g.38302285C>T	GRCh37
NC_000002.10:g.38155789C>T	NCBI36
NG_008386.2:g.5960G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.247G>A	ENSP00000478839.2:p.Asp83Asn
ENST00000610745.5:c.247G>A MANE Select	ENSP00000478561.1:p.Asp83Asn
ENST00000490576.1:c.247G>A	ENSP00000478839.1:p.Asp83Asn
ENST00000494864.1:c.-70-3832G>A	ENSP00000479876.1:n.-70-3832G>A
ENST00000610745.4:c.247G>A	ENSP00000478561.1:p.Asp83Asn
ENST00000613082.1:n.375+638G>A
ENST00000614273.1:c.247G>A	ENSP00000483678.1:p.Asp83Asn
NM_000104.3:c.247G>A	NP_000095.2:p.Asp83Asn
NM_000104.4:c.247G>A MANE Select	NP_000095.2:p.Asp83Asn