Canonical Allele Identifier: CA346327366

Gene: CYP1B1

Linked Data

• MyVariant Identifiers: chr2:g.38298157T>G (hg19) ; chr2:g.38071014T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071014T>G , CM000664.2:g.38071014T>G	GRCh38
NC_000002.11:g.38298157T>G , CM000664.1:g.38298157T>G	GRCh37
NC_000002.10:g.38151661T>G	NCBI36
NG_008386.2:g.10088A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1340A>C	ENSP00000478839.2:p.Asp447Ala
ENST00000610745.5:c.1340A>C MANE Select	ENSP00000478561.1:p.Asp447Ala
ENST00000492443.1:n.718A>C
ENST00000494864.1:c.227A>C	ENSP00000479876.1:p.Asp76Ala
ENST00000610745.4:c.1340A>C	ENSP00000478561.1:p.Asp447Ala
ENST00000614273.1:c.1340A>C	ENSP00000483678.1:p.Asp447Ala
NM_000104.3:c.1340A>C	NP_000095.2:p.Asp447Ala
NM_000104.4:c.1340A>C MANE Select	NP_000095.2:p.Asp447Ala