Canonical Allele Identifier: CA425865097
Gene: CYP1B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.38301995C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074852C>G , CM000664.2:g.38074852C>G GRCh38
NC_000002.11:g.38301995C>G , CM000664.1:g.38301995C>G GRCh37
NC_000002.10:g.38155499C>G NCBI36
NG_008386.2:g.6250G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.537G>C ENSP00000478839.2:p.Ala179=
ENST00000610745.5:c.537G>C MANE Select ENSP00000478561.1:p.Ala179=
ENST00000494864.1:c.-70-3542G>C ENSP00000479876.1:n.-70-3542G>C
ENST00000610745.4:c.537G>C ENSP00000478561.1:p.Ala179=
ENST00000613082.1:n.376-444G>C
ENST00000614273.1:c.537G>C ENSP00000483678.1:p.Ala179=
NM_000104.3:c.537G>C NP_000095.2:p.Ala179=
NM_000104.4:c.537G>C MANE Select NP_000095.2:p.Ala179=