Canonical Allele Identifier: CA45506319
Gene: CYP1B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 456637
ClinVar RCV Id: RCV000525533
dbSNP Id: rs1056836
MyVariant Identifiers: chr2:g.38071060G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071060G>C , CM000664.2:g.38071060G>C GRCh38
NG_008386.2:g.10042C>G

Transcript Alleles

HGVS Amino-acid change
NM_000104.3:c.1294C>G VV NP_000095.2:p.Leu432Val
ENST00000492443.1:n.672C>G
ENST00000494864.1:c.181C>G ENSP00000479876.1:p.Leu61Val
ENST00000610745.4:c.1294C>G ENSP00000478561.1:p.Leu432Val
ENST00000614273.1:c.1294C>G ENSP00000483678.1:p.Leu432Val