Canonical Allele Identifier: CA346327078
Gene: CYP1B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.38298022T>G (hg19) chr2:g.38070879T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070879T>G , CM000664.2:g.38070879T>G GRCh38
NC_000002.11:g.38298022T>G , CM000664.1:g.38298022T>G GRCh37
NC_000002.10:g.38151526T>G NCBI36
NG_008386.2:g.10223A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1475A>C ENSP00000478839.2:p.Asp492Ala
ENST00000610745.5:c.1475A>C MANE Select ENSP00000478561.1:p.Asp492Ala
ENST00000494864.1:c.362A>C ENSP00000479876.1:p.Asp121Ala
ENST00000610745.4:c.1475A>C ENSP00000478561.1:p.Asp492Ala
ENST00000614273.1:c.1475A>C ENSP00000483678.1:p.Asp492Ala
NM_000104.3:c.1475A>C NP_000095.2:p.Asp492Ala
NM_000104.4:c.1475A>C MANE Select NP_000095.2:p.Asp492Ala
Search 100 bp 5'
Search 100 bp 3'