Canonical Allele Identifier: CA1619915

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 225333
• ClinVar RCV Id: RCV000312523 ; RCV000490426 ; RCV002485372 ; RCV003758726 ; RCV003488467
• dbSNP Id: rs72549382
• ExAC: 2:38301574 C / A
• gnomAD v2: 2-38301574-C-A
• gnomAD v3: 2-38074431-C-A
• gnomAD v4: 2-38074431-C-A
• MyVariant Identifiers: chr2:g.38301574C>A (hg19) ; chr2:g.38074431C>A (hg38)
• PubMed: PMID:11527932

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074431C>A , CM000664.2:g.38074431C>A	GRCh38
NC_000002.11:g.38301574C>A , CM000664.1:g.38301574C>A	GRCh37
NC_000002.10:g.38155078C>A	NCBI36
NG_008386.2:g.6671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.958G>T	ENSP00000478839.2:p.Val320Leu
ENST00000610745.5:c.958G>T MANE Select	ENSP00000478561.1:p.Val320Leu
ENST00000494864.1:c.-70-3121G>T	ENSP00000479876.1:n.-70-3121G>T
ENST00000610745.4:c.958G>T	ENSP00000478561.1:p.Val320Leu
ENST00000613082.1:n.376-23G>T
ENST00000614273.1:c.958G>T	ENSP00000483678.1:p.Val320Leu
NM_000104.3:c.958G>T	NP_000095.2:p.Val320Leu
NM_000104.4:c.958G>T MANE Select	NP_000095.2:p.Val320Leu