Canonical Allele Identifier: CA10591219

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868762
• ClinVar RCV Id: RCV001077726
• dbSNP Id: rs1403122031
• MyVariant Identifiers: chr17:g.41215380C>G (hg19) ; chr17:g.43063363C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063363C>G , CM000679.2:g.43063363C>G	GRCh38
NC_000017.10:g.41215380C>G , CM000679.1:g.41215380C>G	GRCh37
NC_000017.9:g.38468906C>G	NCBI36
NG_005905.2:g.154621G>C , LRG_292:g.154621G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5160G>C	ENSP00000417241.2:p.Gln1720His
ENST00000470026.6:c.5163G>C	ENSP00000419274.2:p.Gln1721His
ENST00000473961.6:c.5037G>C	ENSP00000420201.2:p.Gln1679His
ENST00000476777.6:c.5157G>C	ENSP00000417554.2:p.Gln1719His
ENST00000477152.6:c.5085G>C	ENSP00000419988.2:p.Gln1695His
ENST00000478531.6:c.1851G>C	ENSP00000420412.2:p.Gln617His
ENST00000489037.2:c.5085G>C	ENSP00000420781.2:p.Gln1695His
ENST00000493919.6:c.1713G>C	ENSP00000418819.2:p.Gln571His
ENST00000494123.6:c.5163G>C	ENSP00000419103.2:p.Gln1721His
ENST00000497488.2:c.4275G>C	ENSP00000418986.2:p.Gln1425His
ENST00000618469.2:c.5163G>C	ENSP00000478114.2:p.Gln1721His
ENST00000634433.2:c.5040G>C	ENSP00000489431.2:p.Gln1680His
ENST00000644379.2:c.5229G>C	ENSP00000496570.2:p.Gln1743His
ENST00000644555.2:c.1713G>C	ENSP00000494614.2:p.Gln571His
ENST00000652672.2:c.5022G>C	ENSP00000498906.2:p.Gln1674His
ENST00000484087.6:c.1725G>C	ENSP00000419481.2:p.Gln575His
ENST00000357654.9:c.5163G>C MANE Select	ENSP00000350283.3:p.Gln1721His
ENST00000471181.7:c.5226G>C	ENSP00000418960.2:p.Gln1742His
ENST00000644379.1:c.1550G>C
ENST00000352993.7:c.1737G>C	ENSP00000312236.5:p.Gln579His
ENST00000357654.7:c.5163G>C	ENSP00000350283.3:p.Gln1721His
ENST00000461221.5:c.*4946G>C	ENSP00000418548.1:n.*4946G>C
ENST00000468300.5:c.1851G>C	ENSP00000417148.1:p.Gln617His
ENST00000471181.6:c.5226G>C	ENSP00000418960.2:p.Gln1742His
ENST00000478531.5:c.1851G>C	ENSP00000420412.1:p.Gln617His
ENST00000484087.5:c.1476G>C	ENSP00000419481.1:p.Gln492His
ENST00000491747.6:c.1851G>C	ENSP00000420705.2:p.Gln617His
ENST00000493795.5:c.5022G>C	ENSP00000418775.1:p.Gln1674His
ENST00000493919.5:c.1713G>C	ENSP00000418819.1:p.Gln571His
ENST00000586385.5:c.93G>C	ENSP00000465818.1:p.Gln31His
ENST00000591534.5:c.636G>C	ENSP00000467329.1:p.Gln212His
ENST00000591849.5:c.-98-13173G>C	ENSP00000465347.1:n.-98-13173G>C
NM_007294.3:c.5163G>C , LRG_292t1:c.5163G>C	NP_009225.1:p.Gln1721His
NM_007297.3:c.5022G>C	NP_009228.2:p.Gln1674His
NM_007298.3:c.1851G>C	NP_009229.2:p.Gln617His
NM_007299.3:c.1851G>C	NP_009230.2:p.Gln617His
NM_007300.3:c.5226G>C	NP_009231.2:p.Gln1742His
NR_027676.1:n.5299G>C
NM_007294.4:c.5163G>C MANE Select	NP_009225.1:p.Gln1721His
NM_007297.4:c.5022G>C	NP_009228.2:p.Gln1674His
NM_007299.4:c.1851G>C	NP_009230.2:p.Gln617His
NM_007300.4:c.5226G>C	NP_009231.2:p.Gln1742His
NR_027676.2:n.5340G>C