Canonical Allele Identifier: CA346329766
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1384370014
gnomAD v2: 2-38302357-G-C
gnomAD v3: 2-38075214-G-C
gnomAD v4: 2-38075214-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075214G>C , CM000664.2:g.38075214G>C GRCh38
NC_000002.11:g.38302357G>C , CM000664.1:g.38302357G>C GRCh37
NC_000002.10:g.38155861G>C NCBI36
NG_008386.2:g.5888C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.175C>G ENSP00000478839.2:p.Leu59Val
ENST00000610745.5:c.175C>G MANE Select ENSP00000478561.1:p.Leu59Val
ENST00000490576.1:c.175C>G ENSP00000478839.1:p.Leu59Val
ENST00000494864.1:c.-70-3904C>G ENSP00000479876.1:n.-70-3904C>G
ENST00000610745.4:c.175C>G ENSP00000478561.1:p.Leu59Val
ENST00000613082.1:n.375+566C>G
ENST00000614273.1:c.175C>G ENSP00000483678.1:p.Leu59Val
NM_000104.3:c.175C>G NP_000095.2:p.Leu59Val
NM_000104.4:c.175C>G MANE Select NP_000095.2:p.Leu59Val