Canonical Allele Identifier: CA10591345

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063936C>A , CM000679.2:g.43063936C>A	GRCh38
NC_000017.10:g.41215953C>A , CM000679.1:g.41215953C>A	GRCh37
NC_000017.9:g.38469479C>A	NCBI36
NG_005905.2:g.154048G>T , LRG_292:g.154048G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5090G>T MANE Select	NP_009225.1:p.Cys1697Phe
ENST00000357654.9:c.5090G>T MANE Select	ENSP00000350283.3:p.Cys1697Phe
NM_007294.3:c.5090G>T , LRG_292t1:c.5090G>T	NP_009225.1:p.Cys1697Phe
NM_007297.3:c.4949G>T	NP_009228.2:p.Cys1650Phe
NM_007297.4:c.4949G>T	NP_009228.2:p.Cys1650Phe
NM_007298.3:c.1778G>T	NP_009229.2:p.Cys593Phe
NM_007299.3:c.1778G>T	NP_009230.2:p.Cys593Phe
NM_007299.4:c.1778G>T	NP_009230.2:p.Cys593Phe
NM_007300.3:c.5153G>T	NP_009231.2:p.Cys1718Phe
NM_007300.4:c.5153G>T	NP_009231.2:p.Cys1718Phe
NR_027676.1:n.5226G>T
NR_027676.2:n.5267G>T
ENST00000352993.7:c.1664G>T	ENSP00000312236.5:p.Cys555Phe
ENST00000357654.7:c.5090G>T	ENSP00000350283.3:p.Cys1697Phe
ENST00000461221.5:c.*4873G>T	ENSP00000418548.1:n.*4873G>T
ENST00000461574.2:c.5087G>T	ENSP00000417241.2:p.Cys1696Phe
ENST00000468300.5:c.1778G>T	ENSP00000417148.1:p.Cys593Phe
ENST00000470026.6:c.5090G>T	ENSP00000419274.2:p.Cys1697Phe
ENST00000471181.6:c.5153G>T	ENSP00000418960.2:p.Cys1718Phe
ENST00000471181.7:c.5153G>T	ENSP00000418960.2:p.Cys1718Phe
ENST00000473961.6:c.4964G>T	ENSP00000420201.2:p.Cys1655Phe
ENST00000476777.6:c.5084G>T	ENSP00000417554.2:p.Cys1695Phe
ENST00000477152.6:c.5012G>T	ENSP00000419988.2:p.Cys1671Phe
ENST00000478531.5:c.1778G>T	ENSP00000420412.1:p.Cys593Phe
ENST00000478531.6:c.1778G>T	ENSP00000420412.2:p.Cys593Phe
ENST00000484087.5:c.1403G>T	ENSP00000419481.1:p.Cys468Phe
ENST00000484087.6:c.1652G>T	ENSP00000419481.2:p.Cys551Phe
ENST00000489037.2:c.5012G>T	ENSP00000420781.2:p.Cys1671Phe
ENST00000491747.6:c.1778G>T	ENSP00000420705.2:p.Cys593Phe
ENST00000493795.5:c.4949G>T	ENSP00000418775.1:p.Cys1650Phe
ENST00000493919.5:c.1640G>T	ENSP00000418819.1:p.Cys547Phe
ENST00000493919.6:c.1640G>T	ENSP00000418819.2:p.Cys547Phe
ENST00000494123.6:c.5090G>T	ENSP00000419103.2:p.Cys1697Phe
ENST00000497488.2:c.4202G>T	ENSP00000418986.2:p.Cys1401Phe
ENST00000586385.5:c.20G>T	ENSP00000465818.1:p.Cys7Phe
ENST00000591534.5:c.563G>T	ENSP00000467329.1:p.Cys188Phe
ENST00000591849.5:c.-98-13746G>T	ENSP00000465347.1:n.-98-13746G>T
ENST00000618469.2:c.5090G>T	ENSP00000478114.2:p.Cys1697Phe
ENST00000634433.2:c.4967G>T	ENSP00000489431.2:p.Cys1656Phe
ENST00000644379.1:c.1477G>T
ENST00000644379.2:c.5156G>T	ENSP00000496570.2:p.Cys1719Phe
ENST00000644555.2:c.1640G>T	ENSP00000494614.2:p.Cys547Phe
ENST00000652672.2:c.4949G>T	ENSP00000498906.2:p.Cys1650Phe