Canonical Allele Identifier: CA45511716

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1027917232
• gnomAD v2: 2-38302346-G-C
• gnomAD v3: 2-38075203-G-C
• gnomAD v4: 2-38075203-G-C
• MyVariant Identifiers: chr2:g.38302346G>C (hg19) ; chr2:g.38075203G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075203G>C , CM000664.2:g.38075203G>C	GRCh38
NC_000002.11:g.38302346G>C , CM000664.1:g.38302346G>C	GRCh37
NC_000002.10:g.38155850G>C	NCBI36
NG_008386.2:g.5899C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.186C>G	ENSP00000478839.2:p.Asn62Lys
ENST00000610745.5:c.186C>G MANE Select	ENSP00000478561.1:p.Asn62Lys
ENST00000490576.1:c.186C>G	ENSP00000478839.1:p.Asn62Lys
ENST00000494864.1:c.-70-3893C>G	ENSP00000479876.1:n.-70-3893C>G
ENST00000610745.4:c.186C>G	ENSP00000478561.1:p.Asn62Lys
ENST00000613082.1:n.375+577C>G
ENST00000614273.1:c.186C>G	ENSP00000483678.1:p.Asn62Lys
NM_000104.3:c.186C>G	NP_000095.2:p.Asn62Lys
NM_000104.4:c.186C>G MANE Select	NP_000095.2:p.Asn62Lys