Canonical Allele Identifier: CA10613792
Community Standard Title: NM_000104.4(CYP1B1):c.-2G>A
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075780C>T , CM000664.2:g.38075780C>T GRCh38
NC_000002.11:g.38302923C>T , CM000664.1:g.38302923C>T GRCh37
NC_000002.10:g.38156427C>T NCBI36
NG_008386.2:g.5322G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000104.4:c.-2G>A MANE Select NP_000095.2:n.-2G>A
ENST00000610745.5:c.-2G>A MANE Select ENSP00000478561.1:n.-2G>A
NM_000104.3:c.-2G>A NP_000095.2:n.-2G>A
ENST00000490576.1:c.-2+239G>A ENSP00000478839.1:n.-2+239G>A
ENST00000490576.2:c.-2+239G>A ENSP00000478839.2:n.-2+239G>A
ENST00000494864.1:c.-70-4470G>A ENSP00000479876.1:n.-70-4470G>A
ENST00000610745.4:c.-2G>A ENSP00000478561.1:n.-2G>A
ENST00000613082.1:n.375G>A
ENST00000614273.1:c.-6G>A ENSP00000483678.1:n.-6G>A
XM_011533236.1:c.394C>T XP_011531538.1:p.Leu132=