Canonical Allele Identifier: CA003317

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125791
• ClinVar RCV Id: RCV000112543 ; RCV000214128
• dbSNP Id: rs483353100
• MyVariant Identifiers: chr17:g.41215379A>G (hg19) ; chr17:g.43063362A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063362A>G , CM000679.2:g.43063362A>G	GRCh38
NC_000017.10:g.41215379A>G , CM000679.1:g.41215379A>G	GRCh37
NC_000017.9:g.38468905A>G	NCBI36
NG_005905.2:g.154622T>C , LRG_292:g.154622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5161T>C	ENSP00000417241.2:p.Ser1721Pro
ENST00000470026.6:c.5164T>C	ENSP00000419274.2:p.Ser1722Pro
ENST00000473961.6:c.5038T>C	ENSP00000420201.2:p.Ser1680Pro
ENST00000476777.6:c.5158T>C	ENSP00000417554.2:p.Ser1720Pro
ENST00000477152.6:c.5086T>C	ENSP00000419988.2:p.Ser1696Pro
ENST00000478531.6:c.1852T>C	ENSP00000420412.2:p.Ser618Pro
ENST00000489037.2:c.5086T>C	ENSP00000420781.2:p.Ser1696Pro
ENST00000493919.6:c.1714T>C	ENSP00000418819.2:p.Ser572Pro
ENST00000494123.6:c.5164T>C	ENSP00000419103.2:p.Ser1722Pro
ENST00000497488.2:c.4276T>C	ENSP00000418986.2:p.Ser1426Pro
ENST00000618469.2:c.5164T>C	ENSP00000478114.2:p.Ser1722Pro
ENST00000634433.2:c.5041T>C	ENSP00000489431.2:p.Ser1681Pro
ENST00000644379.2:c.5230T>C	ENSP00000496570.2:p.Ser1744Pro
ENST00000644555.2:c.1714T>C	ENSP00000494614.2:p.Ser572Pro
ENST00000652672.2:c.5023T>C	ENSP00000498906.2:p.Ser1675Pro
ENST00000484087.6:c.1726T>C	ENSP00000419481.2:p.Ser576Pro
ENST00000357654.9:c.5164T>C MANE Select	ENSP00000350283.3:p.Ser1722Pro
ENST00000471181.7:c.5227T>C	ENSP00000418960.2:p.Ser1743Pro
ENST00000644379.1:c.1551T>C
ENST00000352993.7:c.1738T>C	ENSP00000312236.5:p.Ser580Pro
ENST00000357654.7:c.5164T>C	ENSP00000350283.3:p.Ser1722Pro
ENST00000461221.5:c.*4947T>C	ENSP00000418548.1:n.*4947T>C
ENST00000468300.5:c.1852T>C	ENSP00000417148.1:p.Ser618Pro
ENST00000471181.6:c.5227T>C	ENSP00000418960.2:p.Ser1743Pro
ENST00000478531.5:c.1852T>C	ENSP00000420412.1:p.Ser618Pro
ENST00000484087.5:c.1477T>C	ENSP00000419481.1:p.Ser493Pro
ENST00000491747.6:c.1852T>C	ENSP00000420705.2:p.Ser618Pro
ENST00000493795.5:c.5023T>C	ENSP00000418775.1:p.Ser1675Pro
ENST00000493919.5:c.1714T>C	ENSP00000418819.1:p.Ser572Pro
ENST00000586385.5:c.94T>C	ENSP00000465818.1:p.Ser32Pro
ENST00000591534.5:c.637T>C	ENSP00000467329.1:p.Ser213Pro
ENST00000591849.5:c.-98-13172T>C	ENSP00000465347.1:n.-98-13172T>C
NM_007294.3:c.5164T>C , LRG_292t1:c.5164T>C	NP_009225.1:p.Ser1722Pro
NM_007297.3:c.5023T>C	NP_009228.2:p.Ser1675Pro
NM_007298.3:c.1852T>C	NP_009229.2:p.Ser618Pro
NM_007299.3:c.1852T>C	NP_009230.2:p.Ser618Pro
NM_007300.3:c.5227T>C	NP_009231.2:p.Ser1743Pro
NR_027676.1:n.5300T>C
NM_007294.4:c.5164T>C MANE Select	NP_009225.1:p.Ser1722Pro
NM_007297.4:c.5023T>C	NP_009228.2:p.Ser1675Pro
NM_007299.4:c.1852T>C	NP_009230.2:p.Ser618Pro
NM_007300.4:c.5227T>C	NP_009231.2:p.Ser1743Pro
NR_027676.2:n.5341T>C