Canonical Allele Identifier: CA10590962

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865274
• ClinVar RCV Id: RCV001072661
• dbSNP Id: rs2051209003
• MyVariant Identifiers: chr17:g.41203118T>G (hg19) ; chr17:g.43051101T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051101T>G , CM000679.2:g.43051101T>G	GRCh38
NC_000017.10:g.41203118T>G , CM000679.1:g.41203118T>G	GRCh37
NC_000017.9:g.38456644T>G	NCBI36
NG_005905.2:g.166883A>C , LRG_292:g.166883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5291A>C	ENSP00000417241.2:p.Glu1764Ala
ENST00000470026.6:c.5294A>C	ENSP00000419274.2:p.Glu1765Ala
ENST00000473961.6:c.5168A>C	ENSP00000420201.2:p.Glu1723Ala
ENST00000476777.6:c.5288A>C	ENSP00000417554.2:p.Glu1763Ala
ENST00000477152.6:c.5216A>C	ENSP00000419988.2:p.Glu1739Ala
ENST00000478531.6:c.1982A>C	ENSP00000420412.2:p.Glu661Ala
ENST00000489037.2:c.5216A>C	ENSP00000420781.2:p.Glu1739Ala
ENST00000493919.6:c.1844A>C	ENSP00000418819.2:p.Glu615Ala
ENST00000494123.6:c.5294A>C	ENSP00000419103.2:p.Glu1765Ala
ENST00000497488.2:c.4406A>C	ENSP00000418986.2:p.Glu1469Ala
ENST00000618469.2:c.5294A>C	ENSP00000478114.2:p.Glu1765Ala
ENST00000634433.2:c.5171A>C	ENSP00000489431.2:p.Glu1724Ala
ENST00000644379.2:c.5360A>C	ENSP00000496570.2:p.Glu1787Ala
ENST00000644555.2:c.1844A>C	ENSP00000494614.2:p.Glu615Ala
ENST00000652672.2:c.5153A>C	ENSP00000498906.2:p.Glu1718Ala
ENST00000484087.6:c.1856A>C	ENSP00000419481.2:p.Glu619Ala
ENST00000357654.9:c.5294A>C MANE Select	ENSP00000350283.3:p.Glu1765Ala
ENST00000471181.7:c.5357A>C	ENSP00000418960.2:p.Glu1786Ala
ENST00000644379.1:c.1681A>C
ENST00000352993.7:c.1868A>C	ENSP00000312236.5:p.Glu623Ala
ENST00000357654.7:c.5294A>C	ENSP00000350283.3:p.Glu1765Ala
ENST00000461221.5:c.*5077A>C	ENSP00000418548.1:n.*5077A>C
ENST00000468300.5:c.1982A>C	ENSP00000417148.1:p.Glu661Ala
ENST00000471181.6:c.5357A>C	ENSP00000418960.2:p.Glu1786Ala
ENST00000491747.6:c.1982A>C	ENSP00000420705.2:p.Glu661Ala
ENST00000493795.5:c.5153A>C	ENSP00000418775.1:p.Glu1718Ala
ENST00000586385.5:c.224A>C	ENSP00000465818.1:p.Glu75Ala
ENST00000591534.5:c.767A>C	ENSP00000467329.1:p.Glu256Ala
ENST00000591849.5:c.-98-911A>C	ENSP00000465347.1:n.-98-911A>C
NM_007294.3:c.5294A>C , LRG_292t1:c.5294A>C	NP_009225.1:p.Glu1765Ala
NM_007297.3:c.5153A>C	NP_009228.2:p.Glu1718Ala
NM_007298.3:c.1982A>C	NP_009229.2:p.Glu661Ala
NM_007299.3:c.1982A>C	NP_009230.2:p.Glu661Ala
NM_007300.3:c.5357A>C	NP_009231.2:p.Glu1786Ala
NR_027676.1:n.5430A>C
NM_007294.4:c.5294A>C MANE Select	NP_009225.1:p.Glu1765Ala
NM_007297.4:c.5153A>C	NP_009228.2:p.Glu1718Ala
NM_007299.4:c.1982A>C	NP_009230.2:p.Glu661Ala
NM_007300.4:c.5357A>C	NP_009231.2:p.Glu1786Ala
NR_027676.2:n.5471A>C