Canonical Allele Identifier: CA1619798
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs759196527
ExAC: 2:38298124 C / A
gnomAD v2: 2-38298124-C-A
gnomAD v4: 2-38070981-C-A
MyVariant Identifiers: chr2:g.38298124C>A (hg19) chr2:g.38070981C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070981C>A , CM000664.2:g.38070981C>A GRCh38
NC_000002.11:g.38298124C>A , CM000664.1:g.38298124C>A GRCh37
NC_000002.10:g.38151628C>A NCBI36
NG_008386.2:g.10121G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1373G>T ENSP00000478839.2:p.Ser458Ile
ENST00000610745.5:c.1373G>T MANE Select ENSP00000478561.1:p.Ser458Ile
ENST00000494864.1:c.260G>T ENSP00000479876.1:p.Ser87Ile
ENST00000610745.4:c.1373G>T ENSP00000478561.1:p.Ser458Ile
ENST00000614273.1:c.1373G>T ENSP00000483678.1:p.Ser458Ile
NM_000104.3:c.1373G>T NP_000095.2:p.Ser458Ile
NM_000104.4:c.1373G>T MANE Select NP_000095.2:p.Ser458Ile
Search 100 bp 5'
Search 100 bp 3'