Canonical Allele Identifier: CA254237

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 7730
• ClinVar RCV Id: RCV000008169 ; RCV000255452 ; RCV000763083 ; RCV001206715 ; RCV001335112 ; RCV003483427
• dbSNP Id: rs28936700
• ExAC: 2:38302350 C / T
• gnomAD v2: 2-38302350-C-T
• gnomAD v3: 2-38075207-C-T
• gnomAD v4: 2-38075207-C-T
• COSMIC: COSM4133834
• MyVariant Identifiers: chr2:g.38302350C>T (hg19) ; chr2:g.38075207C>T (hg38)
• PubMed: PMID:9463332 ; PMID:12372064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075207C>T , CM000664.2:g.38075207C>T	GRCh38
NC_000002.11:g.38302350C>T , CM000664.1:g.38302350C>T	GRCh37
NC_000002.10:g.38155854C>T	NCBI36
NG_008386.2:g.5895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.182G>A	ENSP00000478839.2:p.Gly61Glu
ENST00000610745.5:c.182G>A MANE Select	ENSP00000478561.1:p.Gly61Glu
ENST00000490576.1:c.182G>A	ENSP00000478839.1:p.Gly61Glu
ENST00000494864.1:c.-70-3897G>A	ENSP00000479876.1:n.-70-3897G>A
ENST00000610745.4:c.182G>A	ENSP00000478561.1:p.Gly61Glu
ENST00000613082.1:n.375+573G>A
ENST00000614273.1:c.182G>A	ENSP00000483678.1:p.Gly61Glu
NM_000104.3:c.182G>A	NP_000095.2:p.Gly61Glu
NM_000104.4:c.182G>A MANE Select	NP_000095.2:p.Gly61Glu