Canonical Allele Identifier: CA1619848

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2203048
• ClinVar RCV Id: RCV002664231 ; RCV003404131 ; RCV003465998
• dbSNP Id: rs148542782
• ExAC: 2:38298329 G / T
• gnomAD v2: 2-38298329-G-T
• gnomAD v3: 2-38071186-G-T
• gnomAD v4: 2-38071186-G-T
• MyVariant Identifiers: chr2:g.38298329G>T (hg19) ; chr2:g.38071186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071186G>T , CM000664.2:g.38071186G>T	GRCh38
NC_000002.11:g.38298329G>T , CM000664.1:g.38298329G>T	GRCh37
NC_000002.10:g.38151833G>T	NCBI36
NG_008386.2:g.9916C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1168C>A	ENSP00000478839.2:p.Arg390Ser
ENST00000610745.5:c.1168C>A MANE Select	ENSP00000478561.1:p.Arg390Ser
ENST00000492443.1:n.546C>A
ENST00000494864.1:c.55C>A	ENSP00000479876.1:p.Arg19Ser
ENST00000610745.4:c.1168C>A	ENSP00000478561.1:p.Arg390Ser
ENST00000613082.1:n.563C>A
ENST00000614273.1:c.1168C>A	ENSP00000483678.1:p.Arg390Ser
NM_000104.3:c.1168C>A	NP_000095.2:p.Arg390Ser
NM_000104.4:c.1168C>A MANE Select	NP_000095.2:p.Arg390Ser