Canonical Allele Identifier: CA10591727

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 631413
• ClinVar RCV Id: RCV000777623 ; RCV001073128
• dbSNP Id: rs1567774741
• MyVariant Identifiers: chr17:g.41223032G>T (hg19) ; chr17:g.43071015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071015G>T , CM000679.2:g.43071015G>T	GRCh38
NC_000017.10:g.41223032G>T , CM000679.1:g.41223032G>T	GRCh37
NC_000017.9:g.38476558G>T	NCBI36
NG_005905.2:g.146969C>A , LRG_292:g.146969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4896C>A	ENSP00000417241.2:p.Ser1632Arg
ENST00000470026.6:c.4899C>A	ENSP00000419274.2:p.Ser1633Arg
ENST00000473961.6:c.4773C>A	ENSP00000420201.2:p.Ser1591Arg
ENST00000476777.6:c.4893C>A	ENSP00000417554.2:p.Ser1631Arg
ENST00000477152.6:c.4821C>A	ENSP00000419988.2:p.Ser1607Arg
ENST00000478531.6:c.1587C>A	ENSP00000420412.2:p.Ser529Arg
ENST00000489037.2:c.4821C>A	ENSP00000420781.2:p.Ser1607Arg
ENST00000493919.6:c.1449C>A	ENSP00000418819.2:p.Ser483Arg
ENST00000494123.6:c.4899C>A	ENSP00000419103.2:p.Ser1633Arg
ENST00000497488.2:c.4011C>A	ENSP00000418986.2:p.Ser1337Arg
ENST00000618469.2:c.4899C>A	ENSP00000478114.2:p.Ser1633Arg
ENST00000634433.2:c.4776C>A	ENSP00000489431.2:p.Ser1592Arg
ENST00000644379.2:c.4965C>A	ENSP00000496570.2:p.Ser1655Arg
ENST00000644555.2:c.1449C>A	ENSP00000494614.2:p.Ser483Arg
ENST00000652672.2:c.4758C>A	ENSP00000498906.2:p.Ser1586Arg
ENST00000484087.6:c.1461C>A	ENSP00000419481.2:p.Ser487Arg
ENST00000700182.1:c.1506C>A	ENSP00000514849.1:p.Ser502Arg
ENST00000357654.9:c.4899C>A MANE Select	ENSP00000350283.3:p.Ser1633Arg
ENST00000471181.7:c.4962C>A	ENSP00000418960.2:p.Ser1654Arg
ENST00000644379.1:c.1286C>A
ENST00000352993.7:c.1473C>A	ENSP00000312236.5:p.Ser491Arg
ENST00000357654.7:c.4899C>A	ENSP00000350283.3:p.Ser1633Arg
ENST00000461221.5:c.*4682C>A	ENSP00000418548.1:n.*4682C>A
ENST00000468300.5:c.1587C>A	ENSP00000417148.1:p.Ser529Arg
ENST00000471181.6:c.4962C>A	ENSP00000418960.2:p.Ser1654Arg
ENST00000472490.1:n.52C>A
ENST00000478531.5:c.1587C>A	ENSP00000420412.1:p.Ser529Arg
ENST00000484087.5:c.1212C>A	ENSP00000419481.1:p.Ser404Arg
ENST00000491747.6:c.1587C>A	ENSP00000420705.2:p.Ser529Arg
ENST00000493795.5:c.4758C>A	ENSP00000418775.1:p.Ser1586Arg
ENST00000493919.5:c.1449C>A	ENSP00000418819.1:p.Ser483Arg
ENST00000586385.5:c.5-7064C>A	ENSP00000465818.1:n.5-7064C>A
ENST00000591534.5:c.372C>A	ENSP00000467329.1:p.Ser124Arg
ENST00000591849.5:c.-98-20825C>A	ENSP00000465347.1:n.-98-20825C>A
NM_007294.3:c.4899C>A , LRG_292t1:c.4899C>A	NP_009225.1:p.Ser1633Arg
NM_007297.3:c.4758C>A	NP_009228.2:p.Ser1586Arg
NM_007298.3:c.1587C>A	NP_009229.2:p.Ser529Arg
NM_007299.3:c.1587C>A	NP_009230.2:p.Ser529Arg
NM_007300.3:c.4962C>A	NP_009231.2:p.Ser1654Arg
NR_027676.1:n.5035C>A
NM_007294.4:c.4899C>A MANE Select	NP_009225.1:p.Ser1633Arg
NM_007297.4:c.4758C>A	NP_009228.2:p.Ser1586Arg
NM_007299.4:c.1587C>A	NP_009230.2:p.Ser529Arg
NM_007300.4:c.4962C>A	NP_009231.2:p.Ser1654Arg
NR_027676.2:n.5076C>A