Canonical Allele Identifier: CA10593487

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41243026T>G (hg19) ; chr17:g.43091009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091009T>G , CM000679.2:g.43091009T>G	GRCh38
NC_000017.10:g.41243026T>G , CM000679.1:g.41243026T>G	GRCh37
NC_000017.9:g.38496552T>G	NCBI36
NG_005905.2:g.126975A>C , LRG_292:g.126975A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4120A>C	ENSP00000417241.2:p.Ser1374Arg
ENST00000470026.6:c.4120A>C	ENSP00000419274.2:p.Ser1374Arg
ENST00000473961.6:c.3994A>C	ENSP00000420201.2:p.Ser1332Arg
ENST00000476777.6:c.4117A>C	ENSP00000417554.2:p.Ser1373Arg
ENST00000477152.6:c.4042A>C	ENSP00000419988.2:p.Ser1348Arg
ENST00000478531.6:c.808A>C	ENSP00000420412.2:p.Ser270Arg
ENST00000489037.2:c.4042A>C	ENSP00000420781.2:p.Ser1348Arg
ENST00000493919.6:c.670A>C	ENSP00000418819.2:p.Ser224Arg
ENST00000494123.6:c.4120A>C	ENSP00000419103.2:p.Ser1374Arg
ENST00000497488.2:c.3232A>C	ENSP00000418986.2:p.Ser1078Arg
ENST00000618469.2:c.4120A>C	ENSP00000478114.2:p.Ser1374Arg
ENST00000634433.2:c.3997A>C	ENSP00000489431.2:p.Ser1333Arg
ENST00000644379.2:c.4120A>C	ENSP00000496570.2:p.Ser1374Arg
ENST00000644555.2:c.670A>C	ENSP00000494614.2:p.Ser224Arg
ENST00000652672.2:c.3979A>C	ENSP00000498906.2:p.Ser1327Arg
ENST00000484087.6:c.688A>C	ENSP00000419481.2:p.Ser230Arg
ENST00000700182.1:c.730A>C	ENSP00000514849.1:p.Ser244Arg
ENST00000357654.9:c.4120A>C MANE Select	ENSP00000350283.3:p.Ser1374Arg
ENST00000471181.7:c.4120A>C	ENSP00000418960.2:p.Ser1374Arg
ENST00000644379.1:c.441A>C
ENST00000352993.7:c.694A>C	ENSP00000312236.5:p.Ser232Arg
ENST00000357654.7:c.4120A>C	ENSP00000350283.3:p.Ser1374Arg
ENST00000461221.5:c.*3903A>C	ENSP00000418548.1:n.*3903A>C
ENST00000461574.1:c.414A>C
ENST00000468300.5:c.811A>C	ENSP00000417148.1:p.Ser271Arg
ENST00000471181.6:c.4120A>C	ENSP00000418960.2:p.Ser1374Arg
ENST00000478531.5:c.808A>C	ENSP00000420412.1:p.Ser270Arg
ENST00000484087.5:c.433A>C	ENSP00000419481.1:p.Ser145Arg
ENST00000487825.5:c.436A>C	ENSP00000418212.1:p.Ser146Arg
ENST00000491747.6:c.811A>C	ENSP00000420705.2:p.Ser271Arg
ENST00000493795.5:c.3979A>C	ENSP00000418775.1:p.Ser1327Arg
ENST00000493919.5:c.670A>C	ENSP00000418819.1:p.Ser224Arg
ENST00000586385.5:c.5-27058A>C	ENSP00000465818.1:n.5-27058A>C
ENST00000591534.5:c.-43-16488A>C	ENSP00000467329.1:n.-43-16488A>C
ENST00000591849.5:c.-99+34262A>C	ENSP00000465347.1:n.-99+34262A>C
NM_007294.3:c.4120A>C , LRG_292t1:c.4120A>C	NP_009225.1:p.Ser1374Arg
NM_007297.3:c.3979A>C	NP_009228.2:p.Ser1327Arg
NM_007298.3:c.811A>C	NP_009229.2:p.Ser271Arg
NM_007299.3:c.811A>C	NP_009230.2:p.Ser271Arg
NM_007300.3:c.4120A>C	NP_009231.2:p.Ser1374Arg
NR_027676.1:n.4256A>C
NM_007294.4:c.4120A>C MANE Select	NP_009225.1:p.Ser1374Arg
NM_007297.4:c.3979A>C	NP_009228.2:p.Ser1327Arg
NM_007299.4:c.811A>C	NP_009230.2:p.Ser271Arg
NM_007300.4:c.4120A>C	NP_009231.2:p.Ser1374Arg
NR_027676.2:n.4297A>C