Canonical Allele Identifier: CA10591215

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 491098
• ClinVar RCV Id: RCV000582258 ; RCV000637560 ; RCV001077730
• dbSNP Id: rs80357104
• MyVariant Identifiers: chr17:g.41215378G>T (hg19) ; chr17:g.43063361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063361G>T , CM000679.2:g.43063361G>T	GRCh38
NC_000017.10:g.41215378G>T , CM000679.1:g.41215378G>T	GRCh37
NC_000017.9:g.38468904G>T	NCBI36
NG_005905.2:g.154623C>A , LRG_292:g.154623C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5162C>A	ENSP00000417241.2:p.Ser1721Tyr
ENST00000470026.6:c.5165C>A	ENSP00000419274.2:p.Ser1722Tyr
ENST00000473961.6:c.5039C>A	ENSP00000420201.2:p.Ser1680Tyr
ENST00000476777.6:c.5159C>A	ENSP00000417554.2:p.Ser1720Tyr
ENST00000477152.6:c.5087C>A	ENSP00000419988.2:p.Ser1696Tyr
ENST00000478531.6:c.1853C>A	ENSP00000420412.2:p.Ser618Tyr
ENST00000489037.2:c.5087C>A	ENSP00000420781.2:p.Ser1696Tyr
ENST00000493919.6:c.1715C>A	ENSP00000418819.2:p.Ser572Tyr
ENST00000494123.6:c.5165C>A	ENSP00000419103.2:p.Ser1722Tyr
ENST00000497488.2:c.4277C>A	ENSP00000418986.2:p.Ser1426Tyr
ENST00000618469.2:c.5165C>A	ENSP00000478114.2:p.Ser1722Tyr
ENST00000634433.2:c.5042C>A	ENSP00000489431.2:p.Ser1681Tyr
ENST00000644379.2:c.5231C>A	ENSP00000496570.2:p.Ser1744Tyr
ENST00000644555.2:c.1715C>A	ENSP00000494614.2:p.Ser572Tyr
ENST00000652672.2:c.5024C>A	ENSP00000498906.2:p.Ser1675Tyr
ENST00000484087.6:c.1727C>A	ENSP00000419481.2:p.Ser576Tyr
ENST00000357654.9:c.5165C>A MANE Select	ENSP00000350283.3:p.Ser1722Tyr
ENST00000471181.7:c.5228C>A	ENSP00000418960.2:p.Ser1743Tyr
ENST00000644379.1:c.1552C>A
ENST00000352993.7:c.1739C>A	ENSP00000312236.5:p.Ser580Tyr
ENST00000357654.7:c.5165C>A	ENSP00000350283.3:p.Ser1722Tyr
ENST00000461221.5:c.*4948C>A	ENSP00000418548.1:n.*4948C>A
ENST00000468300.5:c.1853C>A	ENSP00000417148.1:p.Ser618Tyr
ENST00000471181.6:c.5228C>A	ENSP00000418960.2:p.Ser1743Tyr
ENST00000478531.5:c.1853C>A	ENSP00000420412.1:p.Ser618Tyr
ENST00000484087.5:c.1478C>A	ENSP00000419481.1:p.Ser493Tyr
ENST00000491747.6:c.1853C>A	ENSP00000420705.2:p.Ser618Tyr
ENST00000493795.5:c.5024C>A	ENSP00000418775.1:p.Ser1675Tyr
ENST00000493919.5:c.1715C>A	ENSP00000418819.1:p.Ser572Tyr
ENST00000586385.5:c.95C>A	ENSP00000465818.1:p.Ser32Tyr
ENST00000591534.5:c.638C>A	ENSP00000467329.1:p.Ser213Tyr
ENST00000591849.5:c.-98-13171C>A	ENSP00000465347.1:n.-98-13171C>A
NM_007294.3:c.5165C>A , LRG_292t1:c.5165C>A	NP_009225.1:p.Ser1722Tyr
NM_007297.3:c.5024C>A	NP_009228.2:p.Ser1675Tyr
NM_007298.3:c.1853C>A	NP_009229.2:p.Ser618Tyr
NM_007299.3:c.1853C>A	NP_009230.2:p.Ser618Tyr
NM_007300.3:c.5228C>A	NP_009231.2:p.Ser1743Tyr
NR_027676.1:n.5301C>A
NM_007294.4:c.5165C>A MANE Select	NP_009225.1:p.Ser1722Tyr
NM_007297.4:c.5024C>A	NP_009228.2:p.Ser1675Tyr
NM_007299.4:c.1853C>A	NP_009230.2:p.Ser618Tyr
NM_007300.4:c.5228C>A	NP_009231.2:p.Ser1743Tyr
NR_027676.2:n.5342C>A