Canonical Allele Identifier: CA346329049

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1198506525
• gnomAD v2: 2-38302000-C-G
• gnomAD v4: 2-38074857-C-G
• MyVariant Identifiers: chr2:g.38302000C>G (hg19) ; chr2:g.38074857C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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