Canonical Allele Identifier: CA10593101

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234468G>T (hg19) ; chr17:g.43082451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082451G>T , CM000679.2:g.43082451G>T	GRCh38
NC_000017.10:g.41234468G>T , CM000679.1:g.41234468G>T	GRCh37
NC_000017.9:g.38487994G>T	NCBI36
NG_005905.2:g.135533C>A , LRG_292:g.135533C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4310C>A	ENSP00000417241.2:p.Ser1437Tyr
ENST00000470026.6:c.4310C>A	ENSP00000419274.2:p.Ser1437Tyr
ENST00000473961.6:c.4184C>A	ENSP00000420201.2:p.Ser1395Tyr
ENST00000476777.6:c.4304C>A	ENSP00000417554.2:p.Ser1435Tyr
ENST00000477152.6:c.4232C>A	ENSP00000419988.2:p.Ser1411Tyr
ENST00000478531.6:c.998C>A	ENSP00000420412.2:p.Ser333Tyr
ENST00000489037.2:c.4232C>A	ENSP00000420781.2:p.Ser1411Tyr
ENST00000493919.6:c.860C>A	ENSP00000418819.2:p.Ser287Tyr
ENST00000494123.6:c.4310C>A	ENSP00000419103.2:p.Ser1437Tyr
ENST00000497488.2:c.3422C>A	ENSP00000418986.2:p.Ser1141Tyr
ENST00000618469.2:c.4310C>A	ENSP00000478114.2:p.Ser1437Tyr
ENST00000634433.2:c.4187C>A	ENSP00000489431.2:p.Ser1396Tyr
ENST00000644379.2:c.4310C>A	ENSP00000496570.2:p.Ser1437Tyr
ENST00000644555.2:c.860C>A	ENSP00000494614.2:p.Ser287Tyr
ENST00000652672.2:c.4169C>A	ENSP00000498906.2:p.Ser1390Tyr
ENST00000484087.6:c.875C>A	ENSP00000419481.2:p.Ser292Tyr
ENST00000700182.1:c.920C>A	ENSP00000514849.1:p.Ser307Tyr
ENST00000357654.9:c.4310C>A MANE Select	ENSP00000350283.3:p.Ser1437Tyr
ENST00000471181.7:c.4310C>A	ENSP00000418960.2:p.Ser1437Tyr
ENST00000644379.1:c.631C>A
ENST00000352993.7:c.884C>A	ENSP00000312236.5:p.Ser295Tyr
ENST00000357654.7:c.4310C>A	ENSP00000350283.3:p.Ser1437Tyr
ENST00000461221.5:c.*4093C>A	ENSP00000418548.1:n.*4093C>A
ENST00000461574.1:c.604C>A
ENST00000468300.5:c.1001C>A	ENSP00000417148.1:p.Ser334Tyr
ENST00000471181.6:c.4310C>A	ENSP00000418960.2:p.Ser1437Tyr
ENST00000478531.5:c.998C>A	ENSP00000420412.1:p.Ser333Tyr
ENST00000484087.5:c.623C>A	ENSP00000419481.1:p.Ser208Tyr
ENST00000487825.5:c.626C>A	ENSP00000418212.1:p.Ser209Tyr
ENST00000491747.6:c.1001C>A	ENSP00000420705.2:p.Ser334Tyr
ENST00000493795.5:c.4169C>A	ENSP00000418775.1:p.Ser1390Tyr
ENST00000493919.5:c.860C>A	ENSP00000418819.1:p.Ser287Tyr
ENST00000586385.5:c.5-18500C>A	ENSP00000465818.1:n.5-18500C>A
ENST00000591534.5:c.-43-7930C>A	ENSP00000467329.1:n.-43-7930C>A
ENST00000591849.5:c.-98-32261C>A	ENSP00000465347.1:n.-98-32261C>A
ENST00000621897.1:n.204C>A
NM_007294.3:c.4310C>A , LRG_292t1:c.4310C>A	NP_009225.1:p.Ser1437Tyr
NM_007297.3:c.4169C>A	NP_009228.2:p.Ser1390Tyr
NM_007298.3:c.1001C>A	NP_009229.2:p.Ser334Tyr
NM_007299.3:c.1001C>A	NP_009230.2:p.Ser334Tyr
NM_007300.3:c.4310C>A	NP_009231.2:p.Ser1437Tyr
NR_027676.1:n.4446C>A
NM_007294.4:c.4310C>A MANE Select	NP_009225.1:p.Ser1437Tyr
NM_007297.4:c.4169C>A	NP_009228.2:p.Ser1390Tyr
NM_007299.4:c.1001C>A	NP_009230.2:p.Ser334Tyr
NM_007300.4:c.4310C>A	NP_009231.2:p.Ser1437Tyr
NR_027676.2:n.4487C>A