Canonical Allele Identifier: CA10593026

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234430A>C (hg19) ; chr17:g.43082413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082413A>C , CM000679.2:g.43082413A>C	GRCh38
NC_000017.10:g.41234430A>C , CM000679.1:g.41234430A>C	GRCh37
NC_000017.9:g.38487956A>C	NCBI36
NG_005905.2:g.135571T>G , LRG_292:g.135571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4348T>G	ENSP00000417241.2:p.Ser1450Ala
ENST00000470026.6:c.4348T>G	ENSP00000419274.2:p.Ser1450Ala
ENST00000473961.6:c.4222T>G	ENSP00000420201.2:p.Ser1408Ala
ENST00000476777.6:c.4342T>G	ENSP00000417554.2:p.Ser1448Ala
ENST00000477152.6:c.4270T>G	ENSP00000419988.2:p.Ser1424Ala
ENST00000478531.6:c.1036T>G	ENSP00000420412.2:p.Ser346Ala
ENST00000489037.2:c.4270T>G	ENSP00000420781.2:p.Ser1424Ala
ENST00000493919.6:c.898T>G	ENSP00000418819.2:p.Ser300Ala
ENST00000494123.6:c.4348T>G	ENSP00000419103.2:p.Ser1450Ala
ENST00000497488.2:c.3460T>G	ENSP00000418986.2:p.Ser1154Ala
ENST00000618469.2:c.4348T>G	ENSP00000478114.2:p.Ser1450Ala
ENST00000634433.2:c.4225T>G	ENSP00000489431.2:p.Ser1409Ala
ENST00000644379.2:c.4348T>G	ENSP00000496570.2:p.Ser1450Ala
ENST00000644555.2:c.898T>G	ENSP00000494614.2:p.Ser300Ala
ENST00000652672.2:c.4207T>G	ENSP00000498906.2:p.Ser1403Ala
ENST00000484087.6:c.913T>G	ENSP00000419481.2:p.Ser305Ala
ENST00000700182.1:c.958T>G	ENSP00000514849.1:p.Ser320Ala
ENST00000357654.9:c.4348T>G MANE Select	ENSP00000350283.3:p.Ser1450Ala
ENST00000471181.7:c.4348T>G	ENSP00000418960.2:p.Ser1450Ala
ENST00000644379.1:c.669T>G
ENST00000352993.7:c.922T>G	ENSP00000312236.5:p.Ser308Ala
ENST00000357654.7:c.4348T>G	ENSP00000350283.3:p.Ser1450Ala
ENST00000461221.5:c.*4131T>G	ENSP00000418548.1:n.*4131T>G
ENST00000461574.1:c.642T>G
ENST00000468300.5:c.1039T>G	ENSP00000417148.1:p.Ser347Ala
ENST00000471181.6:c.4348T>G	ENSP00000418960.2:p.Ser1450Ala
ENST00000478531.5:c.1036T>G	ENSP00000420412.1:p.Ser346Ala
ENST00000484087.5:c.661T>G	ENSP00000419481.1:p.Ser221Ala
ENST00000487825.5:c.664T>G	ENSP00000418212.1:p.Ser222Ala
ENST00000491747.6:c.1039T>G	ENSP00000420705.2:p.Ser347Ala
ENST00000493795.5:c.4207T>G	ENSP00000418775.1:p.Ser1403Ala
ENST00000493919.5:c.898T>G	ENSP00000418819.1:p.Ser300Ala
ENST00000586385.5:c.5-18462T>G	ENSP00000465818.1:n.5-18462T>G
ENST00000591534.5:c.-43-7892T>G	ENSP00000467329.1:n.-43-7892T>G
ENST00000591849.5:c.-98-32223T>G	ENSP00000465347.1:n.-98-32223T>G
ENST00000621897.1:n.242T>G
NM_007294.3:c.4348T>G , LRG_292t1:c.4348T>G	NP_009225.1:p.Ser1450Ala
NM_007297.3:c.4207T>G	NP_009228.2:p.Ser1403Ala
NM_007298.3:c.1039T>G	NP_009229.2:p.Ser347Ala
NM_007299.3:c.1039T>G	NP_009230.2:p.Ser347Ala
NM_007300.3:c.4348T>G	NP_009231.2:p.Ser1450Ala
NR_027676.1:n.4484T>G
NM_007294.4:c.4348T>G MANE Select	NP_009225.1:p.Ser1450Ala
NM_007297.4:c.4207T>G	NP_009228.2:p.Ser1403Ala
NM_007299.4:c.1039T>G	NP_009230.2:p.Ser347Ala
NM_007300.4:c.4348T>G	NP_009231.2:p.Ser1450Ala
NR_027676.2:n.4525T>G