Canonical Allele Identifier: CA10600714

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094845G>A , CM000679.2:g.43094845G>A	GRCh38
NC_000017.10:g.41246862G>A , CM000679.1:g.41246862G>A	GRCh37
NC_000017.9:g.38500388G>A	NCBI36
NG_005905.2:g.123139C>T , LRG_292:g.123139C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.686C>T MANE Select	NP_009225.1:p.Ser229Phe
ENST00000357654.9:c.686C>T MANE Select	ENSP00000350283.3:p.Ser229Phe
NM_007294.3:c.686C>T , LRG_292t1:c.686C>T	NP_009225.1:p.Ser229Phe
NM_007297.3:c.545C>T	NP_009228.2:p.Ser182Phe
NM_007297.4:c.545C>T	NP_009228.2:p.Ser182Phe
NM_007298.3:c.686C>T	NP_009229.2:p.Ser229Phe
NM_007299.3:c.686C>T	NP_009230.2:p.Ser229Phe
NM_007299.4:c.686C>T	NP_009230.2:p.Ser229Phe
NM_007300.3:c.686C>T	NP_009231.2:p.Ser229Phe
NM_007300.4:c.686C>T	NP_009231.2:p.Ser229Phe
NR_027676.1:n.822C>T
NR_027676.2:n.863C>T
ENST00000352993.7:c.670+1001C>T	ENSP00000312236.5:n.670+1001C>T
ENST00000354071.7:c.686C>T	ENSP00000326002.7:p.Ser229Phe
ENST00000354071.8:n.750C>T
ENST00000357654.7:c.686C>T	ENSP00000350283.3:p.Ser229Phe
ENST00000412061.3:c.37C>T
ENST00000461221.5:c.*469C>T	ENSP00000418548.1:n.*469C>T
ENST00000461574.2:c.686C>T	ENSP00000417241.2:p.Ser229Phe
ENST00000468300.5:c.686C>T	ENSP00000417148.1:p.Ser229Phe
ENST00000470026.5:c.686C>T	ENSP00000419274.1:p.Ser229Phe
ENST00000470026.6:c.686C>T	ENSP00000419274.2:p.Ser229Phe
ENST00000471181.6:c.686C>T	ENSP00000418960.2:p.Ser229Phe
ENST00000471181.7:c.686C>T	ENSP00000418960.2:p.Ser229Phe
ENST00000473961.5:c.283C>T
ENST00000473961.6:c.560C>T	ENSP00000420201.2:p.Ser187Phe
ENST00000476777.6:c.683C>T	ENSP00000417554.2:p.Ser228Phe
ENST00000477152.5:c.608C>T	ENSP00000419988.1:p.Ser203Phe
ENST00000477152.6:c.608C>T	ENSP00000419988.2:p.Ser203Phe
ENST00000478531.5:c.683C>T	ENSP00000420412.1:p.Ser228Phe
ENST00000478531.6:c.683C>T	ENSP00000420412.2:p.Ser228Phe
ENST00000484087.5:c.308C>T	ENSP00000419481.1:p.Ser103Phe
ENST00000484087.6:c.563C>T	ENSP00000419481.2:p.Ser188Phe
ENST00000487825.5:c.311C>T	ENSP00000418212.1:p.Ser104Phe
ENST00000489037.2:c.608C>T	ENSP00000420781.2:p.Ser203Phe
ENST00000491747.6:c.686C>T	ENSP00000420705.2:p.Ser229Phe
ENST00000492859.5:c.*622C>T	ENSP00000420253.1:n.*622C>T
ENST00000493795.5:c.545C>T	ENSP00000418775.1:p.Ser182Phe
ENST00000493919.5:c.545C>T	ENSP00000418819.1:p.Ser182Phe
ENST00000493919.6:c.545C>T	ENSP00000418819.2:p.Ser182Phe
ENST00000494123.5:c.686C>T	ENSP00000419103.1:p.Ser229Phe
ENST00000494123.6:c.686C>T	ENSP00000419103.2:p.Ser229Phe
ENST00000497488.1:c.-203C>T	ENSP00000418986.1:n.-203C>T
ENST00000497488.2:c.-203C>T	ENSP00000418986.2:n.-203C>T
ENST00000586385.5:c.4+30337C>T	ENSP00000465818.1:n.4+30337C>T
ENST00000591534.5:c.-43-20324C>T	ENSP00000467329.1:n.-43-20324C>T
ENST00000591849.5:c.-99+30426C>T	ENSP00000465347.1:n.-99+30426C>T
ENST00000618469.2:c.686C>T	ENSP00000478114.2:p.Ser229Phe
ENST00000634433.1:c.563C>T	ENSP00000489431.1:p.Ser188Phe
ENST00000634433.2:c.563C>T	ENSP00000489431.2:p.Ser188Phe
ENST00000642945.1:c.*560C>T	ENSP00000495897.1:n.*560C>T
ENST00000644379.2:c.686C>T	ENSP00000496570.2:p.Ser229Phe
ENST00000644555.2:c.545C>T	ENSP00000494614.2:p.Ser182Phe
ENST00000652672.1:c.545C>T	ENSP00000498906.1:p.Ser182Phe
ENST00000652672.2:c.545C>T	ENSP00000498906.2:p.Ser182Phe
ENST00000700182.1:c.605C>T	ENSP00000514849.1:p.Ser202Phe
ENST00000700183.1:c.*694C>T	ENSP00000514850.1:n.*694C>T