Canonical Allele Identifier: CA45512483
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1019630498
gnomAD v2: 2-38302743-C-A
gnomAD v3: 2-38075600-C-A
gnomAD v4: 2-38075600-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075600C>A , CM000664.2:g.38075600C>A GRCh38
NC_000002.11:g.38302743C>A , CM000664.1:g.38302743C>A GRCh37
NC_000002.10:g.38156247C>A NCBI36
NG_008386.2:g.5502G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-211G>T ENSP00000478839.2:n.-1-211G>T
ENST00000610745.5:c.-2+180G>T MANE Select ENSP00000478561.1:n.-2+180G>T
ENST00000490576.1:c.-1-211G>T ENSP00000478839.1:n.-1-211G>T
ENST00000494864.1:c.-70-4290G>T ENSP00000479876.1:n.-70-4290G>T
ENST00000610745.4:c.-2+180G>T ENSP00000478561.1:n.-2+180G>T
ENST00000613082.1:n.375+180G>T
ENST00000614273.1:c.-2+176G>T ENSP00000483678.1:n.-2+176G>T
NM_000104.3:c.-2+180G>T NP_000095.2:n.-2+180G>T
XM_011533236.1:c.214C>A XP_011531538.1:p.Pro72Thr
NM_000104.4:c.-2+180G>T MANE Select NP_000095.2:n.-2+180G>T