Canonical Allele Identifier: CA500143599

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1103417
• ClinVar RCV Id: RCV001427119
• dbSNP Id: rs1022076404
• MyVariant Identifiers: chr17:g.41203123C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051106C>A , CM000679.2:g.43051106C>A	GRCh38
NC_000017.10:g.41203123C>A , CM000679.1:g.41203123C>A	GRCh37
NC_000017.9:g.38456649C>A	NCBI36
NG_005905.2:g.166878G>T , LRG_292:g.166878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5286G>T	ENSP00000417241.2:p.Gly1762=
ENST00000470026.6:c.5289G>T	ENSP00000419274.2:p.Gly1763=
ENST00000473961.6:c.5163G>T	ENSP00000420201.2:p.Gly1721=
ENST00000476777.6:c.5283G>T	ENSP00000417554.2:p.Gly1761=
ENST00000477152.6:c.5211G>T	ENSP00000419988.2:p.Gly1737=
ENST00000478531.6:c.1977G>T	ENSP00000420412.2:p.Gly659=
ENST00000489037.2:c.5211G>T	ENSP00000420781.2:p.Gly1737=
ENST00000493919.6:c.1839G>T	ENSP00000418819.2:p.Gly613=
ENST00000494123.6:c.5289G>T	ENSP00000419103.2:p.Gly1763=
ENST00000497488.2:c.4401G>T	ENSP00000418986.2:p.Gly1467=
ENST00000618469.2:c.5289G>T	ENSP00000478114.2:p.Gly1763=
ENST00000634433.2:c.5166G>T	ENSP00000489431.2:p.Gly1722=
ENST00000644379.2:c.5355G>T	ENSP00000496570.2:p.Gly1785=
ENST00000644555.2:c.1839G>T	ENSP00000494614.2:p.Gly613=
ENST00000652672.2:c.5148G>T	ENSP00000498906.2:p.Gly1716=
ENST00000484087.6:c.1851G>T	ENSP00000419481.2:p.Gly617=
ENST00000357654.9:c.5289G>T MANE Select	ENSP00000350283.3:p.Gly1763=
ENST00000471181.7:c.5352G>T	ENSP00000418960.2:p.Gly1784=
ENST00000644379.1:c.1676G>T
ENST00000352993.7:c.1863G>T	ENSP00000312236.5:p.Gly621=
ENST00000357654.7:c.5289G>T	ENSP00000350283.3:p.Gly1763=
ENST00000461221.5:c.*5072G>T	ENSP00000418548.1:n.*5072G>T
ENST00000468300.5:c.1977G>T	ENSP00000417148.1:p.Gly659=
ENST00000471181.6:c.5352G>T	ENSP00000418960.2:p.Gly1784=
ENST00000491747.6:c.1977G>T	ENSP00000420705.2:p.Gly659=
ENST00000493795.5:c.5148G>T	ENSP00000418775.1:p.Gly1716=
ENST00000586385.5:c.219G>T	ENSP00000465818.1:p.Gly73=
ENST00000591534.5:c.762G>T	ENSP00000467329.1:p.Gly254=
ENST00000591849.5:c.-98-916G>T	ENSP00000465347.1:n.-98-916G>T
NM_007294.3:c.5289G>T , LRG_292t1:c.5289G>T	NP_009225.1:p.Gly1763=
NM_007297.3:c.5148G>T	NP_009228.2:p.Gly1716=
NM_007298.3:c.1977G>T	NP_009229.2:p.Gly659=
NM_007299.3:c.1977G>T	NP_009230.2:p.Gly659=
NM_007300.3:c.5352G>T	NP_009231.2:p.Gly1784=
NR_027676.1:n.5425G>T
NM_007294.4:c.5289G>T MANE Select	NP_009225.1:p.Gly1763=
NM_007297.4:c.5148G>T	NP_009228.2:p.Gly1716=
NM_007299.4:c.1977G>T	NP_009230.2:p.Gly659=
NM_007300.4:c.5352G>T	NP_009231.2:p.Gly1784=
NR_027676.2:n.5466G>T