Canonical Allele Identifier: CA10591349

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063939A>G , CM000679.2:g.43063939A>G	GRCh38
NC_000017.10:g.41215956A>G , CM000679.1:g.41215956A>G	GRCh37
NC_000017.9:g.38469482A>G	NCBI36
NG_005905.2:g.154045T>C , LRG_292:g.154045T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5087T>C MANE Select	NP_009225.1:p.Val1696Ala
ENST00000357654.9:c.5087T>C MANE Select	ENSP00000350283.3:p.Val1696Ala
NM_007294.3:c.5087T>C , LRG_292t1:c.5087T>C	NP_009225.1:p.Val1696Ala
NM_007297.3:c.4946T>C	NP_009228.2:p.Val1649Ala
NM_007297.4:c.4946T>C	NP_009228.2:p.Val1649Ala
NM_007298.3:c.1775T>C	NP_009229.2:p.Val592Ala
NM_007299.3:c.1775T>C	NP_009230.2:p.Val592Ala
NM_007299.4:c.1775T>C	NP_009230.2:p.Val592Ala
NM_007300.3:c.5150T>C	NP_009231.2:p.Val1717Ala
NM_007300.4:c.5150T>C	NP_009231.2:p.Val1717Ala
NR_027676.1:n.5223T>C
NR_027676.2:n.5264T>C
ENST00000352993.7:c.1661T>C	ENSP00000312236.5:p.Val554Ala
ENST00000357654.7:c.5087T>C	ENSP00000350283.3:p.Val1696Ala
ENST00000461221.5:c.*4870T>C	ENSP00000418548.1:n.*4870T>C
ENST00000461574.2:c.5084T>C	ENSP00000417241.2:p.Val1695Ala
ENST00000468300.5:c.1775T>C	ENSP00000417148.1:p.Val592Ala
ENST00000470026.6:c.5087T>C	ENSP00000419274.2:p.Val1696Ala
ENST00000471181.6:c.5150T>C	ENSP00000418960.2:p.Val1717Ala
ENST00000471181.7:c.5150T>C	ENSP00000418960.2:p.Val1717Ala
ENST00000473961.6:c.4961T>C	ENSP00000420201.2:p.Val1654Ala
ENST00000476777.6:c.5081T>C	ENSP00000417554.2:p.Val1694Ala
ENST00000477152.6:c.5009T>C	ENSP00000419988.2:p.Val1670Ala
ENST00000478531.5:c.1775T>C	ENSP00000420412.1:p.Val592Ala
ENST00000478531.6:c.1775T>C	ENSP00000420412.2:p.Val592Ala
ENST00000484087.5:c.1400T>C	ENSP00000419481.1:p.Val467Ala
ENST00000484087.6:c.1649T>C	ENSP00000419481.2:p.Val550Ala
ENST00000489037.2:c.5009T>C	ENSP00000420781.2:p.Val1670Ala
ENST00000491747.6:c.1775T>C	ENSP00000420705.2:p.Val592Ala
ENST00000493795.5:c.4946T>C	ENSP00000418775.1:p.Val1649Ala
ENST00000493919.5:c.1637T>C	ENSP00000418819.1:p.Val546Ala
ENST00000493919.6:c.1637T>C	ENSP00000418819.2:p.Val546Ala
ENST00000494123.6:c.5087T>C	ENSP00000419103.2:p.Val1696Ala
ENST00000497488.2:c.4199T>C	ENSP00000418986.2:p.Val1400Ala
ENST00000586385.5:c.17T>C	ENSP00000465818.1:p.Val6Ala
ENST00000591534.5:c.560T>C	ENSP00000467329.1:p.Val187Ala
ENST00000591849.5:c.-98-13749T>C	ENSP00000465347.1:n.-98-13749T>C
ENST00000618469.2:c.5087T>C	ENSP00000478114.2:p.Val1696Ala
ENST00000634433.2:c.4964T>C	ENSP00000489431.2:p.Val1655Ala
ENST00000644379.1:c.1474T>C
ENST00000644379.2:c.5153T>C	ENSP00000496570.2:p.Val1718Ala
ENST00000644555.2:c.1637T>C	ENSP00000494614.2:p.Val546Ala
ENST00000652672.2:c.4946T>C	ENSP00000498906.2:p.Val1649Ala