Canonical Allele Identifier: CA10593039

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234436T>G (hg19) ; chr17:g.43082419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082419T>G , CM000679.2:g.43082419T>G	GRCh38
NC_000017.10:g.41234436T>G , CM000679.1:g.41234436T>G	GRCh37
NC_000017.9:g.38487962T>G	NCBI36
NG_005905.2:g.135565A>C , LRG_292:g.135565A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4342A>C	ENSP00000417241.2:p.Ser1448Arg
ENST00000470026.6:c.4342A>C	ENSP00000419274.2:p.Ser1448Arg
ENST00000473961.6:c.4216A>C	ENSP00000420201.2:p.Ser1406Arg
ENST00000476777.6:c.4336A>C	ENSP00000417554.2:p.Ser1446Arg
ENST00000477152.6:c.4264A>C	ENSP00000419988.2:p.Ser1422Arg
ENST00000478531.6:c.1030A>C	ENSP00000420412.2:p.Ser344Arg
ENST00000489037.2:c.4264A>C	ENSP00000420781.2:p.Ser1422Arg
ENST00000493919.6:c.892A>C	ENSP00000418819.2:p.Ser298Arg
ENST00000494123.6:c.4342A>C	ENSP00000419103.2:p.Ser1448Arg
ENST00000497488.2:c.3454A>C	ENSP00000418986.2:p.Ser1152Arg
ENST00000618469.2:c.4342A>C	ENSP00000478114.2:p.Ser1448Arg
ENST00000634433.2:c.4219A>C	ENSP00000489431.2:p.Ser1407Arg
ENST00000644379.2:c.4342A>C	ENSP00000496570.2:p.Ser1448Arg
ENST00000644555.2:c.892A>C	ENSP00000494614.2:p.Ser298Arg
ENST00000652672.2:c.4201A>C	ENSP00000498906.2:p.Ser1401Arg
ENST00000484087.6:c.907A>C	ENSP00000419481.2:p.Ser303Arg
ENST00000700182.1:c.952A>C	ENSP00000514849.1:p.Ser318Arg
ENST00000357654.9:c.4342A>C MANE Select	ENSP00000350283.3:p.Ser1448Arg
ENST00000471181.7:c.4342A>C	ENSP00000418960.2:p.Ser1448Arg
ENST00000644379.1:c.663A>C
ENST00000352993.7:c.916A>C	ENSP00000312236.5:p.Ser306Arg
ENST00000357654.7:c.4342A>C	ENSP00000350283.3:p.Ser1448Arg
ENST00000461221.5:c.*4125A>C	ENSP00000418548.1:n.*4125A>C
ENST00000461574.1:c.636A>C
ENST00000468300.5:c.1033A>C	ENSP00000417148.1:p.Ser345Arg
ENST00000471181.6:c.4342A>C	ENSP00000418960.2:p.Ser1448Arg
ENST00000478531.5:c.1030A>C	ENSP00000420412.1:p.Ser344Arg
ENST00000484087.5:c.655A>C	ENSP00000419481.1:p.Ser219Arg
ENST00000487825.5:c.658A>C	ENSP00000418212.1:p.Ser220Arg
ENST00000491747.6:c.1033A>C	ENSP00000420705.2:p.Ser345Arg
ENST00000493795.5:c.4201A>C	ENSP00000418775.1:p.Ser1401Arg
ENST00000493919.5:c.892A>C	ENSP00000418819.1:p.Ser298Arg
ENST00000586385.5:c.5-18468A>C	ENSP00000465818.1:n.5-18468A>C
ENST00000591534.5:c.-43-7898A>C	ENSP00000467329.1:n.-43-7898A>C
ENST00000591849.5:c.-98-32229A>C	ENSP00000465347.1:n.-98-32229A>C
ENST00000621897.1:n.236A>C
NM_007294.3:c.4342A>C , LRG_292t1:c.4342A>C	NP_009225.1:p.Ser1448Arg
NM_007297.3:c.4201A>C	NP_009228.2:p.Ser1401Arg
NM_007298.3:c.1033A>C	NP_009229.2:p.Ser345Arg
NM_007299.3:c.1033A>C	NP_009230.2:p.Ser345Arg
NM_007300.3:c.4342A>C	NP_009231.2:p.Ser1448Arg
NR_027676.1:n.4478A>C
NM_007294.4:c.4342A>C MANE Select	NP_009225.1:p.Ser1448Arg
NM_007297.4:c.4201A>C	NP_009228.2:p.Ser1401Arg
NM_007299.4:c.1033A>C	NP_009230.2:p.Ser345Arg
NM_007300.4:c.4342A>C	NP_009231.2:p.Ser1448Arg
NR_027676.2:n.4519A>C