Canonical Allele Identifier: CA10592801

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228620A>C (hg19) ; chr17:g.43076603A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076603A>C , CM000679.2:g.43076603A>C	GRCh38
NC_000017.10:g.41228620A>C , CM000679.1:g.41228620A>C	GRCh37
NC_000017.9:g.38482146A>C	NCBI36
NG_005905.2:g.141381T>G , LRG_292:g.141381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4366T>G	ENSP00000417241.2:p.Ser1456Ala
ENST00000470026.6:c.4369T>G	ENSP00000419274.2:p.Ser1457Ala
ENST00000473961.6:c.4243T>G	ENSP00000420201.2:p.Ser1415Ala
ENST00000476777.6:c.4363T>G	ENSP00000417554.2:p.Ser1455Ala
ENST00000477152.6:c.4291T>G	ENSP00000419988.2:p.Ser1431Ala
ENST00000478531.6:c.1057T>G	ENSP00000420412.2:p.Ser353Ala
ENST00000489037.2:c.4291T>G	ENSP00000420781.2:p.Ser1431Ala
ENST00000493919.6:c.919T>G	ENSP00000418819.2:p.Ser307Ala
ENST00000494123.6:c.4369T>G	ENSP00000419103.2:p.Ser1457Ala
ENST00000497488.2:c.3481T>G	ENSP00000418986.2:p.Ser1161Ala
ENST00000618469.2:c.4369T>G	ENSP00000478114.2:p.Ser1457Ala
ENST00000634433.2:c.4246T>G	ENSP00000489431.2:p.Ser1416Ala
ENST00000644379.2:c.4435T>G	ENSP00000496570.2:p.Ser1479Ala
ENST00000644555.2:c.919T>G	ENSP00000494614.2:p.Ser307Ala
ENST00000652672.2:c.4228T>G	ENSP00000498906.2:p.Ser1410Ala
ENST00000484087.6:c.931T>G	ENSP00000419481.2:p.Ser311Ala
ENST00000700182.1:c.976T>G	ENSP00000514849.1:p.Ser326Ala
ENST00000357654.9:c.4369T>G MANE Select	ENSP00000350283.3:p.Ser1457Ala
ENST00000471181.7:c.4432T>G	ENSP00000418960.2:p.Ser1478Ala
ENST00000644379.1:c.756T>G
ENST00000352993.7:c.943T>G	ENSP00000312236.5:p.Ser315Ala
ENST00000357654.7:c.4369T>G	ENSP00000350283.3:p.Ser1457Ala
ENST00000461221.5:c.*4152T>G	ENSP00000418548.1:n.*4152T>G
ENST00000461574.1:c.660T>G
ENST00000468300.5:c.1057T>G	ENSP00000417148.1:p.Ser353Ala
ENST00000471181.6:c.4432T>G	ENSP00000418960.2:p.Ser1478Ala
ENST00000478531.5:c.1057T>G	ENSP00000420412.1:p.Ser353Ala
ENST00000484087.5:c.682T>G	ENSP00000419481.1:p.Ser228Ala
ENST00000487825.5:c.685T>G	ENSP00000418212.1:p.Ser229Ala
ENST00000491747.6:c.1057T>G	ENSP00000420705.2:p.Ser353Ala
ENST00000493795.5:c.4228T>G	ENSP00000418775.1:p.Ser1410Ala
ENST00000493919.5:c.919T>G	ENSP00000418819.1:p.Ser307Ala
ENST00000586385.5:c.5-12652T>G	ENSP00000465818.1:n.5-12652T>G
ENST00000591534.5:c.-43-2082T>G	ENSP00000467329.1:n.-43-2082T>G
ENST00000591849.5:c.-98-26413T>G	ENSP00000465347.1:n.-98-26413T>G
ENST00000621897.1:n.260T>G
NM_007294.3:c.4369T>G , LRG_292t1:c.4369T>G	NP_009225.1:p.Ser1457Ala
NM_007297.3:c.4228T>G	NP_009228.2:p.Ser1410Ala
NM_007298.3:c.1057T>G	NP_009229.2:p.Ser353Ala
NM_007299.3:c.1057T>G	NP_009230.2:p.Ser353Ala
NM_007300.3:c.4432T>G	NP_009231.2:p.Ser1478Ala
NR_027676.1:n.4505T>G
NM_007294.4:c.4369T>G MANE Select	NP_009225.1:p.Ser1457Ala
NM_007297.4:c.4228T>G	NP_009228.2:p.Ser1410Ala
NM_007299.4:c.1057T>G	NP_009230.2:p.Ser353Ala
NM_007300.4:c.4432T>G	NP_009231.2:p.Ser1478Ala
NR_027676.2:n.4546T>G