Canonical Allele Identifier: CA254241

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 7735
• ClinVar RCV Id: RCV000008174 ; RCV000724653 ; RCV000791358 ; RCV001201386 ; RCV001375550 ; RCV002490338 ; RCV003466834
• dbSNP Id: rs55989760
• ExAC: 2:38298338 C / T
• gnomAD v2: 2-38298338-C-T
• gnomAD v3: 2-38071195-C-T
• gnomAD v4: 2-38071195-C-T
• MyVariant Identifiers: chr2:g.38298338C>T (hg19) ; chr2:g.38071195C>T (hg38)
• PubMed: PMID:9497261 ; PMID:10227395 ; PMID:18537981 ; PMID:21081970 ; PMID:21600657 ; PMID:21854771 ; PMID:23218183 ; PMID:23218701 ; PMID:23891399 ; PMID:27243976 ; PMID:27272408

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071195C>T , CM000664.2:g.38071195C>T	GRCh38
NC_000002.11:g.38298338C>T , CM000664.1:g.38298338C>T	GRCh37
NC_000002.10:g.38151842C>T	NCBI36
NG_008386.2:g.9907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1159G>A	ENSP00000478839.2:p.Glu387Lys
ENST00000610745.5:c.1159G>A MANE Select	ENSP00000478561.1:p.Glu387Lys
ENST00000492443.1:n.537G>A
ENST00000494864.1:c.46G>A	ENSP00000479876.1:p.Glu16Lys
ENST00000610745.4:c.1159G>A	ENSP00000478561.1:p.Glu387Lys
ENST00000613082.1:n.554G>A
ENST00000614273.1:c.1159G>A	ENSP00000483678.1:p.Glu387Lys
NM_000104.3:c.1159G>A	NP_000095.2:p.Glu387Lys
NM_000104.4:c.1159G>A MANE Select	NP_000095.2:p.Glu387Lys