Canonical Allele Identifier: CA1620148

Gene: CYP1B1

Linked Data

• dbSNP Id: rs762576790
• ExAC: 2:38302559 C / G
• gnomAD v2: 2-38302559-C-G
• gnomAD v3: 2-38075416-C-G
• gnomAD v4: 2-38075416-C-G
• MyVariant Identifiers: chr2:g.38302559C>G (hg19) ; chr2:g.38075416C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075416C>G , CM000664.2:g.38075416C>G	GRCh38
NC_000002.11:g.38302559C>G , CM000664.1:g.38302559C>G	GRCh37
NC_000002.10:g.38156063C>G	NCBI36
NG_008386.2:g.5686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-27G>C	ENSP00000478839.2:n.-1-27G>C
ENST00000610745.5:c.-1-27G>C MANE Select	ENSP00000478561.1:n.-1-27G>C
ENST00000490576.1:c.-1-27G>C	ENSP00000478839.1:n.-1-27G>C
ENST00000494864.1:c.-70-4106G>C	ENSP00000479876.1:n.-70-4106G>C
ENST00000610745.4:c.-1-27G>C	ENSP00000478561.1:n.-1-27G>C
ENST00000613082.1:n.375+364G>C
ENST00000614273.1:c.-1-27G>C	ENSP00000483678.1:n.-1-27G>C
NM_000104.3:c.-1-27G>C	NP_000095.2:n.-1-27G>C
XM_011533236.1:c.30C>G	XP_011531538.1:p.Asp10Glu
NM_000104.4:c.-1-27G>C MANE Select	NP_000095.2:n.-1-27G>C