Canonical Allele Identifier: CA914384035

Gene: CYP1B1

Linked Data

• gnomAD v2: 2-38302714-G-C
• gnomAD v4: 2-38075571-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075571G>C , CM000664.2:g.38075571G>C	GRCh38
NC_000002.11:g.38302714G>C , CM000664.1:g.38302714G>C	GRCh37
NC_000002.10:g.38156218G>C	NCBI36
NG_008386.2:g.5531C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-182C>G	ENSP00000478839.2:n.-1-182C>G
ENST00000610745.5:c.-1-182C>G MANE Select	ENSP00000478561.1:n.-1-182C>G
ENST00000490576.1:c.-1-182C>G	ENSP00000478839.1:n.-1-182C>G
ENST00000494864.1:c.-70-4261C>G	ENSP00000479876.1:n.-70-4261C>G
ENST00000610745.4:c.-1-182C>G	ENSP00000478561.1:n.-1-182C>G
ENST00000613082.1:n.375+209C>G
ENST00000614273.1:c.-1-182C>G	ENSP00000483678.1:n.-1-182C>G
NM_000104.3:c.-1-182C>G	NP_000095.2:n.-1-182C>G
XM_011533236.1:c.185G>C	XP_011531538.1:p.Arg62Thr
NM_000104.4:c.-1-182C>G MANE Select	NP_000095.2:n.-1-182C>G