Canonical Allele Identifier: CA346327952
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1239026154
gnomAD v2: 2-38298444-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071301A>C , CM000664.2:g.38071301A>C GRCh38
NC_000002.11:g.38298444A>C , CM000664.1:g.38298444A>C GRCh37
NC_000002.10:g.38151948A>C NCBI36
NG_008386.2:g.9801T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1053T>G ENSP00000478839.2:p.Asp351Glu
ENST00000610745.5:c.1053T>G MANE Select ENSP00000478561.1:p.Asp351Glu
ENST00000492443.1:n.431T>G
ENST00000494864.1:c.-61T>G ENSP00000479876.1:n.-61T>G
ENST00000610745.4:c.1053T>G ENSP00000478561.1:p.Asp351Glu
ENST00000613082.1:n.448T>G
ENST00000614273.1:c.1053T>G ENSP00000483678.1:p.Asp351Glu
NM_000104.3:c.1053T>G NP_000095.2:p.Asp351Glu
NM_000104.4:c.1053T>G MANE Select NP_000095.2:p.Asp351Glu