Canonical Allele Identifier: CA346327082
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs776848093
MyVariant Identifiers: chr2:g.38298023C>G (hg19) chr2:g.38070880C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070880C>G , CM000664.2:g.38070880C>G GRCh38
NC_000002.11:g.38298023C>G , CM000664.1:g.38298023C>G GRCh37
NC_000002.10:g.38151527C>G NCBI36
NG_008386.2:g.10222G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1474G>C ENSP00000478839.2:p.Asp492His
ENST00000610745.5:c.1474G>C MANE Select ENSP00000478561.1:p.Asp492His
ENST00000494864.1:c.361G>C ENSP00000479876.1:p.Asp121His
ENST00000610745.4:c.1474G>C ENSP00000478561.1:p.Asp492His
ENST00000614273.1:c.1474G>C ENSP00000483678.1:p.Asp492His
NM_000104.3:c.1474G>C NP_000095.2:p.Asp492His
NM_000104.4:c.1474G>C MANE Select NP_000095.2:p.Asp492His
Search 100 bp 5'
Search 100 bp 3'