Canonical Allele Identifier: CA1619872

Gene: CYP1B1

Linked Data

• dbSNP Id: rs772853286
• ExAC: 2:38298436 G / C
• gnomAD v2: 2-38298436-G-C
• gnomAD v4: 2-38071293-G-C
• MyVariant Identifiers: chr2:g.38298436G>C (hg19) ; chr2:g.38071293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071293G>C , CM000664.2:g.38071293G>C	GRCh38
NC_000002.11:g.38298436G>C , CM000664.1:g.38298436G>C	GRCh37
NC_000002.10:g.38151940G>C	NCBI36
NG_008386.2:g.9809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1061C>G	ENSP00000478839.2:p.Thr354Ser
ENST00000610745.5:c.1061C>G MANE Select	ENSP00000478561.1:p.Thr354Ser
ENST00000492443.1:n.439C>G
ENST00000494864.1:c.-53C>G	ENSP00000479876.1:n.-53C>G
ENST00000610745.4:c.1061C>G	ENSP00000478561.1:p.Thr354Ser
ENST00000613082.1:n.456C>G
ENST00000614273.1:c.1061C>G	ENSP00000483678.1:p.Thr354Ser
NM_000104.3:c.1061C>G	NP_000095.2:p.Thr354Ser
NM_000104.4:c.1061C>G MANE Select	NP_000095.2:p.Thr354Ser