Canonical Allele Identifier: CA346329048

Gene: CYP1B1

Linked Data

• MyVariant Identifiers: chr2:g.38302000C>A (hg19) ; chr2:g.38074857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074857C>A , CM000664.2:g.38074857C>A	GRCh38
NC_000002.11:g.38302000C>A , CM000664.1:g.38302000C>A	GRCh37
NC_000002.10:g.38155504C>A	NCBI36
NG_008386.2:g.6245G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.532G>T	ENSP00000478839.2:p.Val178Leu
ENST00000610745.5:c.532G>T MANE Select	ENSP00000478561.1:p.Val178Leu
ENST00000494864.1:c.-70-3547G>T	ENSP00000479876.1:n.-70-3547G>T
ENST00000610745.4:c.532G>T	ENSP00000478561.1:p.Val178Leu
ENST00000613082.1:n.376-449G>T
ENST00000614273.1:c.532G>T	ENSP00000483678.1:p.Val178Leu
NM_000104.3:c.532G>T	NP_000095.2:p.Val178Leu
NM_000104.4:c.532G>T MANE Select	NP_000095.2:p.Val178Leu