Canonical Allele Identifier: CA10586114

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 252886
• ClinVar RCV Id: RCV000238611 ; RCV000615770 ; RCV002518535 ; RCV004020983
• dbSNP Id: rs879255492
• MyVariant Identifiers: chr17:g.41201154G>A (hg19) ; chr17:g.43049137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049137G>A , CM000679.2:g.43049137G>A	GRCh38
NC_000017.10:g.41201154G>A , CM000679.1:g.41201154G>A	GRCh37
NC_000017.9:g.38454680G>A	NCBI36
NG_005905.2:g.168847C>T , LRG_292:g.168847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5387C>T	ENSP00000417241.2:p.Ser1796Leu
ENST00000470026.6:c.5390C>T	ENSP00000419274.2:p.Ser1797Leu
ENST00000473961.6:c.5264C>T	ENSP00000420201.2:p.Ser1755Leu
ENST00000476777.6:c.5384C>T	ENSP00000417554.2:p.Ser1795Leu
ENST00000477152.6:c.5312C>T	ENSP00000419988.2:p.Ser1771Leu
ENST00000478531.6:c.2078C>T	ENSP00000420412.2:p.Ser693Leu
ENST00000489037.2:c.5312C>T	ENSP00000420781.2:p.Ser1771Leu
ENST00000493919.6:c.1940C>T	ENSP00000418819.2:p.Ser647Leu
ENST00000494123.6:c.5390C>T	ENSP00000419103.2:p.Ser1797Leu
ENST00000497488.2:c.4502C>T	ENSP00000418986.2:p.Ser1501Leu
ENST00000618469.2:c.5390C>T	ENSP00000478114.2:p.Ser1797Leu
ENST00000634433.2:c.5267C>T	ENSP00000489431.2:p.Ser1756Leu
ENST00000644379.2:c.5456C>T	ENSP00000496570.2:p.Ser1819Leu
ENST00000644555.2:c.1940C>T	ENSP00000494614.2:p.Ser647Leu
ENST00000652672.2:c.5249C>T	ENSP00000498906.2:p.Ser1750Leu
ENST00000484087.6:c.1952C>T	ENSP00000419481.2:p.Ser651Leu
ENST00000700081.1:n.1273C>T
ENST00000357654.9:c.5390C>T MANE Select	ENSP00000350283.3:p.Ser1797Leu
ENST00000471181.7:c.5453C>T	ENSP00000418960.2:p.Ser1818Leu
ENST00000644379.1:c.1777C>T
ENST00000352993.7:c.1964C>T	ENSP00000312236.5:p.Ser655Leu
ENST00000357654.7:c.5390C>T	ENSP00000350283.3:p.Ser1797Leu
ENST00000461221.5:c.*5173C>T	ENSP00000418548.1:n.*5173C>T
ENST00000468300.5:c.2021-1434C>T	ENSP00000417148.1:n.2021-1434C>T
ENST00000471181.6:c.5453C>T	ENSP00000418960.2:p.Ser1818Leu
ENST00000491747.6:c.2078C>T	ENSP00000420705.2:p.Ser693Leu
ENST00000493795.5:c.5249C>T	ENSP00000418775.1:p.Ser1750Leu
ENST00000586385.5:c.320C>T	ENSP00000465818.1:p.Ser107Leu
ENST00000591534.5:c.863C>T	ENSP00000467329.1:p.Ser288Leu
ENST00000591849.5:c.89C>T	ENSP00000465347.1:p.Ser30Leu
NM_007294.3:c.5390C>T , LRG_292t1:c.5390C>T	NP_009225.1:p.Ser1797Leu
NM_007297.3:c.5249C>T	NP_009228.2:p.Ser1750Leu
NM_007298.3:c.2078C>T	NP_009229.2:p.Ser693Leu
NM_007299.3:c.2021-1434C>T	NP_009230.2:n.2021-1434C>T
NM_007300.3:c.5453C>T	NP_009231.2:p.Ser1818Leu
NR_027676.1:n.5526C>T
NM_007294.4:c.5390C>T MANE Select	NP_009225.1:p.Ser1797Leu
NM_007297.4:c.5249C>T	NP_009228.2:p.Ser1750Leu
NM_007299.4:c.2021-1434C>T	NP_009230.2:n.2021-1434C>T
NM_007300.4:c.5453C>T	NP_009231.2:p.Ser1818Leu
NR_027676.2:n.5567C>T