Canonical Allele Identifier: CA500146794

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740717
• ClinVar RCV Id: RCV002328368 ; RCV003645276
• MyVariant Identifiers: chr17:g.41228537A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076520A>C , CM000679.2:g.43076520A>C	GRCh38
NC_000017.10:g.41228537A>C , CM000679.1:g.41228537A>C	GRCh37
NC_000017.9:g.38482063A>C	NCBI36
NG_005905.2:g.141464T>G , LRG_292:g.141464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4449T>G	ENSP00000417241.2:p.Ser1483=
ENST00000470026.6:c.4452T>G	ENSP00000419274.2:p.Ser1484=
ENST00000473961.6:c.4326T>G	ENSP00000420201.2:p.Ser1442=
ENST00000476777.6:c.4446T>G	ENSP00000417554.2:p.Ser1482=
ENST00000477152.6:c.4374T>G	ENSP00000419988.2:p.Ser1458=
ENST00000478531.6:c.1140T>G	ENSP00000420412.2:p.Ser380=
ENST00000489037.2:c.4374T>G	ENSP00000420781.2:p.Ser1458=
ENST00000493919.6:c.1002T>G	ENSP00000418819.2:p.Ser334=
ENST00000494123.6:c.4452T>G	ENSP00000419103.2:p.Ser1484=
ENST00000497488.2:c.3564T>G	ENSP00000418986.2:p.Ser1188=
ENST00000618469.2:c.4452T>G	ENSP00000478114.2:p.Ser1484=
ENST00000634433.2:c.4329T>G	ENSP00000489431.2:p.Ser1443=
ENST00000644379.2:c.4518T>G	ENSP00000496570.2:p.Ser1506=
ENST00000644555.2:c.1002T>G	ENSP00000494614.2:p.Ser334=
ENST00000652672.2:c.4311T>G	ENSP00000498906.2:p.Ser1437=
ENST00000484087.6:c.1014T>G	ENSP00000419481.2:p.Ser338=
ENST00000700182.1:c.1059T>G	ENSP00000514849.1:p.Ser353=
ENST00000357654.9:c.4452T>G MANE Select	ENSP00000350283.3:p.Ser1484=
ENST00000471181.7:c.4515T>G	ENSP00000418960.2:p.Ser1505=
ENST00000644379.1:c.839T>G
ENST00000352993.7:c.1026T>G	ENSP00000312236.5:p.Ser342=
ENST00000357654.7:c.4452T>G	ENSP00000350283.3:p.Ser1484=
ENST00000461221.5:c.*4235T>G	ENSP00000418548.1:n.*4235T>G
ENST00000468300.5:c.1140T>G	ENSP00000417148.1:p.Ser380=
ENST00000471181.6:c.4515T>G	ENSP00000418960.2:p.Ser1505=
ENST00000478531.5:c.1140T>G	ENSP00000420412.1:p.Ser380=
ENST00000484087.5:c.765T>G	ENSP00000419481.1:p.Ser255=
ENST00000487825.5:c.768T>G	ENSP00000418212.1:p.Ser256=
ENST00000491747.6:c.1140T>G	ENSP00000420705.2:p.Ser380=
ENST00000493795.5:c.4311T>G	ENSP00000418775.1:p.Ser1437=
ENST00000493919.5:c.1002T>G	ENSP00000418819.1:p.Ser334=
ENST00000586385.5:c.5-12569T>G	ENSP00000465818.1:n.5-12569T>G
ENST00000591534.5:c.-43-1999T>G	ENSP00000467329.1:n.-43-1999T>G
ENST00000591849.5:c.-98-26330T>G	ENSP00000465347.1:n.-98-26330T>G
ENST00000621897.1:n.343T>G
NM_007294.3:c.4452T>G , LRG_292t1:c.4452T>G	NP_009225.1:p.Ser1484=
NM_007297.3:c.4311T>G	NP_009228.2:p.Ser1437=
NM_007298.3:c.1140T>G	NP_009229.2:p.Ser380=
NM_007299.3:c.1140T>G	NP_009230.2:p.Ser380=
NM_007300.3:c.4515T>G	NP_009231.2:p.Ser1505=
NR_027676.1:n.4588T>G
NM_007294.4:c.4452T>G MANE Select	NP_009225.1:p.Ser1484=
NM_007297.4:c.4311T>G	NP_009228.2:p.Ser1437=
NM_007299.4:c.1140T>G	NP_009230.2:p.Ser380=
NM_007300.4:c.4515T>G	NP_009231.2:p.Ser1505=
NR_027676.2:n.4629T>G