Canonical Allele Identifier: CA500148356

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154146970
• gnomAD v4: 17-43082432-T-C
• MyVariant Identifiers: chr17:g.41234449T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082432T>C , CM000679.2:g.43082432T>C	GRCh38
NC_000017.10:g.41234449T>C , CM000679.1:g.41234449T>C	GRCh37
NC_000017.9:g.38487975T>C	NCBI36
NG_005905.2:g.135552A>G , LRG_292:g.135552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4329A>G	ENSP00000417241.2:p.Arg1443=
ENST00000470026.6:c.4329A>G	ENSP00000419274.2:p.Arg1443=
ENST00000473961.6:c.4203A>G	ENSP00000420201.2:p.Arg1401=
ENST00000476777.6:c.4323A>G	ENSP00000417554.2:p.Arg1441=
ENST00000477152.6:c.4251A>G	ENSP00000419988.2:p.Arg1417=
ENST00000478531.6:c.1017A>G	ENSP00000420412.2:p.Arg339=
ENST00000489037.2:c.4251A>G	ENSP00000420781.2:p.Arg1417=
ENST00000493919.6:c.879A>G	ENSP00000418819.2:p.Arg293=
ENST00000494123.6:c.4329A>G	ENSP00000419103.2:p.Arg1443=
ENST00000497488.2:c.3441A>G	ENSP00000418986.2:p.Arg1147=
ENST00000618469.2:c.4329A>G	ENSP00000478114.2:p.Arg1443=
ENST00000634433.2:c.4206A>G	ENSP00000489431.2:p.Arg1402=
ENST00000644379.2:c.4329A>G	ENSP00000496570.2:p.Arg1443=
ENST00000644555.2:c.879A>G	ENSP00000494614.2:p.Arg293=
ENST00000652672.2:c.4188A>G	ENSP00000498906.2:p.Arg1396=
ENST00000484087.6:c.894A>G	ENSP00000419481.2:p.Arg298=
ENST00000700182.1:c.939A>G	ENSP00000514849.1:p.Arg313=
ENST00000357654.9:c.4329A>G MANE Select	ENSP00000350283.3:p.Arg1443=
ENST00000471181.7:c.4329A>G	ENSP00000418960.2:p.Arg1443=
ENST00000644379.1:c.650A>G
ENST00000352993.7:c.903A>G	ENSP00000312236.5:p.Arg301=
ENST00000357654.7:c.4329A>G	ENSP00000350283.3:p.Arg1443=
ENST00000461221.5:c.*4112A>G	ENSP00000418548.1:n.*4112A>G
ENST00000461574.1:c.623A>G
ENST00000468300.5:c.1020A>G	ENSP00000417148.1:p.Arg340=
ENST00000471181.6:c.4329A>G	ENSP00000418960.2:p.Arg1443=
ENST00000478531.5:c.1017A>G	ENSP00000420412.1:p.Arg339=
ENST00000484087.5:c.642A>G	ENSP00000419481.1:p.Arg214=
ENST00000487825.5:c.645A>G	ENSP00000418212.1:p.Arg215=
ENST00000491747.6:c.1020A>G	ENSP00000420705.2:p.Arg340=
ENST00000493795.5:c.4188A>G	ENSP00000418775.1:p.Arg1396=
ENST00000493919.5:c.879A>G	ENSP00000418819.1:p.Arg293=
ENST00000586385.5:c.5-18481A>G	ENSP00000465818.1:n.5-18481A>G
ENST00000591534.5:c.-43-7911A>G	ENSP00000467329.1:n.-43-7911A>G
ENST00000591849.5:c.-98-32242A>G	ENSP00000465347.1:n.-98-32242A>G
ENST00000621897.1:n.223A>G
NM_007294.3:c.4329A>G , LRG_292t1:c.4329A>G	NP_009225.1:p.Arg1443=
NM_007297.3:c.4188A>G	NP_009228.2:p.Arg1396=
NM_007298.3:c.1020A>G	NP_009229.2:p.Arg340=
NM_007299.3:c.1020A>G	NP_009230.2:p.Arg340=
NM_007300.3:c.4329A>G	NP_009231.2:p.Arg1443=
NR_027676.1:n.4465A>G
NM_007294.4:c.4329A>G MANE Select	NP_009225.1:p.Arg1443=
NM_007297.4:c.4188A>G	NP_009228.2:p.Arg1396=
NM_007299.4:c.1020A>G	NP_009230.2:p.Arg340=
NM_007300.4:c.4329A>G	NP_009231.2:p.Arg1443=
NR_027676.2:n.4506A>G