Canonical Allele Identifier: CA16615642

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 415572
• ClinVar RCV Id: RCV000456766 ; RCV001077286 ; RCV002350029 ; RCV003114600
• dbSNP Id: rs1060504569
• MyVariant Identifiers: chr17:g.41201168C>T (hg19) ; chr17:g.43049151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049151C>T , CM000679.2:g.43049151C>T	GRCh38
NC_000017.10:g.41201168C>T , CM000679.1:g.41201168C>T	GRCh37
NC_000017.9:g.38454694C>T	NCBI36
NG_005905.2:g.168833G>A , LRG_292:g.168833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5373G>A	ENSP00000417241.2:p.Val1791=
ENST00000470026.6:c.5376G>A	ENSP00000419274.2:p.Val1792=
ENST00000473961.6:c.5250G>A	ENSP00000420201.2:p.Val1750=
ENST00000476777.6:c.5370G>A	ENSP00000417554.2:p.Val1790=
ENST00000477152.6:c.5298G>A	ENSP00000419988.2:p.Val1766=
ENST00000478531.6:c.2064G>A	ENSP00000420412.2:p.Val688=
ENST00000489037.2:c.5298G>A	ENSP00000420781.2:p.Val1766=
ENST00000493919.6:c.1926G>A	ENSP00000418819.2:p.Val642=
ENST00000494123.6:c.5376G>A	ENSP00000419103.2:p.Val1792=
ENST00000497488.2:c.4488G>A	ENSP00000418986.2:p.Val1496=
ENST00000618469.2:c.5376G>A	ENSP00000478114.2:p.Val1792=
ENST00000634433.2:c.5253G>A	ENSP00000489431.2:p.Val1751=
ENST00000644379.2:c.5442G>A	ENSP00000496570.2:p.Val1814=
ENST00000644555.2:c.1926G>A	ENSP00000494614.2:p.Val642=
ENST00000652672.2:c.5235G>A	ENSP00000498906.2:p.Val1745=
ENST00000484087.6:c.1938G>A	ENSP00000419481.2:p.Val646=
ENST00000700081.1:n.1259G>A
ENST00000357654.9:c.5376G>A MANE Select	ENSP00000350283.3:p.Val1792=
ENST00000471181.7:c.5439G>A	ENSP00000418960.2:p.Val1813=
ENST00000644379.1:c.1763G>A
ENST00000352993.7:c.1950G>A	ENSP00000312236.5:p.Val650=
ENST00000357654.7:c.5376G>A	ENSP00000350283.3:p.Val1792=
ENST00000461221.5:c.*5159G>A	ENSP00000418548.1:n.*5159G>A
ENST00000468300.5:c.2021-1448G>A	ENSP00000417148.1:n.2021-1448G>A
ENST00000471181.6:c.5439G>A	ENSP00000418960.2:p.Val1813=
ENST00000491747.6:c.2064G>A	ENSP00000420705.2:p.Val688=
ENST00000493795.5:c.5235G>A	ENSP00000418775.1:p.Val1745=
ENST00000586385.5:c.306G>A	ENSP00000465818.1:p.Val102=
ENST00000591534.5:c.849G>A	ENSP00000467329.1:p.Val283=
ENST00000591849.5:c.75G>A	ENSP00000465347.1:p.Val25=
NM_007294.3:c.5376G>A , LRG_292t1:c.5376G>A	NP_009225.1:p.Val1792=
NM_007297.3:c.5235G>A	NP_009228.2:p.Val1745=
NM_007298.3:c.2064G>A	NP_009229.2:p.Val688=
NM_007299.3:c.2021-1448G>A	NP_009230.2:n.2021-1448G>A
NM_007300.3:c.5439G>A	NP_009231.2:p.Val1813=
NR_027676.1:n.5512G>A
NM_007294.4:c.5376G>A MANE Select	NP_009225.1:p.Val1792=
NM_007297.4:c.5235G>A	NP_009228.2:p.Val1745=
NM_007299.4:c.2021-1448G>A	NP_009230.2:n.2021-1448G>A
NM_007300.4:c.5439G>A	NP_009231.2:p.Val1813=
NR_027676.2:n.5553G>A