Canonical Allele Identifier: CA1619749

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 501002
• ClinVar RCV Id: RCV000591749 ; RCV001089022 ; RCV001137226 ; RCV001137227 ; RCV004543371
• dbSNP Id: rs146770394
• ExAC: 2:38297907 A / G
• gnomAD v2: 2-38297907-A-G
• gnomAD v3: 2-38070764-A-G
• gnomAD v4: 2-38070764-A-G
• MyVariant Identifiers: chr2:g.38297907A>G (hg19) ; chr2:g.38070764A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070764A>G , CM000664.2:g.38070764A>G	GRCh38
NC_000002.11:g.38297907A>G , CM000664.1:g.38297907A>G	GRCh37
NC_000002.10:g.38151411A>G	NCBI36
NG_008386.2:g.10338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1590T>C	ENSP00000478839.2:p.Asp530=
ENST00000610745.5:c.1590T>C MANE Select	ENSP00000478561.1:p.Asp530=
ENST00000494864.1:c.477T>C	ENSP00000479876.1:p.Asp159=
ENST00000610745.4:c.1590T>C	ENSP00000478561.1:p.Asp530=
ENST00000614273.1:c.1590T>C	ENSP00000483678.1:p.Asp530=
NM_000104.3:c.1590T>C	NP_000095.2:p.Asp530=
NM_000104.4:c.1590T>C MANE Select	NP_000095.2:p.Asp530=