Canonical Allele Identifier: CA10591137

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867837
• ClinVar RCV Id: RCV001076616
• dbSNP Id: rs80357270
• MyVariant Identifiers: chr17:g.41209148T>G (hg19) ; chr17:g.43057131T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057131T>G , CM000679.2:g.43057131T>G	GRCh38
NC_000017.10:g.41209148T>G , CM000679.1:g.41209148T>G	GRCh37
NC_000017.9:g.38462674T>G	NCBI36
NG_005905.2:g.160853A>C , LRG_292:g.160853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5195A>C	ENSP00000417241.2:p.Asp1732Ala
ENST00000470026.6:c.5198A>C	ENSP00000419274.2:p.Asp1733Ala
ENST00000473961.6:c.5072A>C	ENSP00000420201.2:p.Asp1691Ala
ENST00000476777.6:c.5192A>C	ENSP00000417554.2:p.Asp1731Ala
ENST00000477152.6:c.5120A>C	ENSP00000419988.2:p.Asp1707Ala
ENST00000478531.6:c.1886A>C	ENSP00000420412.2:p.Asp629Ala
ENST00000489037.2:c.5120A>C	ENSP00000420781.2:p.Asp1707Ala
ENST00000493919.6:c.1748A>C	ENSP00000418819.2:p.Asp583Ala
ENST00000494123.6:c.5198A>C	ENSP00000419103.2:p.Asp1733Ala
ENST00000497488.2:c.4310A>C	ENSP00000418986.2:p.Asp1437Ala
ENST00000618469.2:c.5198A>C	ENSP00000478114.2:p.Asp1733Ala
ENST00000634433.2:c.5075A>C	ENSP00000489431.2:p.Asp1692Ala
ENST00000644379.2:c.5264A>C	ENSP00000496570.2:p.Asp1755Ala
ENST00000644555.2:c.1748A>C	ENSP00000494614.2:p.Asp583Ala
ENST00000652672.2:c.5057A>C	ENSP00000498906.2:p.Asp1686Ala
ENST00000484087.6:c.1760A>C	ENSP00000419481.2:p.Asp587Ala
ENST00000357654.9:c.5198A>C MANE Select	ENSP00000350283.3:p.Asp1733Ala
ENST00000471181.7:c.5261A>C	ENSP00000418960.2:p.Asp1754Ala
ENST00000644379.1:c.1585A>C
ENST00000352993.7:c.1772A>C	ENSP00000312236.5:p.Asp591Ala
ENST00000357654.7:c.5198A>C	ENSP00000350283.3:p.Asp1733Ala
ENST00000461221.5:c.*4981A>C	ENSP00000418548.1:n.*4981A>C
ENST00000468300.5:c.1886A>C	ENSP00000417148.1:p.Asp629Ala
ENST00000471181.6:c.5261A>C	ENSP00000418960.2:p.Asp1754Ala
ENST00000491747.6:c.1886A>C	ENSP00000420705.2:p.Asp629Ala
ENST00000493795.5:c.5057A>C	ENSP00000418775.1:p.Asp1686Ala
ENST00000586385.5:c.128A>C	ENSP00000465818.1:p.Asp43Ala
ENST00000591534.5:c.671A>C	ENSP00000467329.1:p.Asp224Ala
ENST00000591849.5:c.-98-6941A>C	ENSP00000465347.1:n.-98-6941A>C
NM_007294.3:c.5198A>C , LRG_292t1:c.5198A>C	NP_009225.1:p.Asp1733Ala
NM_007297.3:c.5057A>C	NP_009228.2:p.Asp1686Ala
NM_007298.3:c.1886A>C	NP_009229.2:p.Asp629Ala
NM_007299.3:c.1886A>C	NP_009230.2:p.Asp629Ala
NM_007300.3:c.5261A>C	NP_009231.2:p.Asp1754Ala
NR_027676.1:n.5334A>C
NM_007294.4:c.5198A>C MANE Select	NP_009225.1:p.Asp1733Ala
NM_007297.4:c.5057A>C	NP_009228.2:p.Asp1686Ala
NM_007299.4:c.1886A>C	NP_009230.2:p.Asp629Ala
NM_007300.4:c.5261A>C	NP_009231.2:p.Asp1754Ala
NR_027676.2:n.5375A>C