Canonical Allele Identifier: CA10590292

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864953
• ClinVar RCV Id: RCV001072258
• dbSNP Id: rs80357107
• MyVariant Identifiers: chr17:g.41197774A>G (hg19) ; chr17:g.43045757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045757A>G , CM000679.2:g.43045757A>G	GRCh38
NC_000017.10:g.41197774A>G , CM000679.1:g.41197774A>G	GRCh37
NC_000017.9:g.38451300A>G	NCBI36
NG_005905.2:g.172227T>C , LRG_292:g.172227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5510T>C	ENSP00000417241.2:p.Val1837Ala
ENST00000470026.6:c.5513T>C	ENSP00000419274.2:p.Val1838Ala
ENST00000473961.6:c.5387T>C	ENSP00000420201.2:p.Val1796Ala
ENST00000476777.6:c.5507T>C	ENSP00000417554.2:p.Val1836Ala
ENST00000477152.6:c.5435T>C	ENSP00000419988.2:p.Val1812Ala
ENST00000478531.6:c.2201T>C	ENSP00000420412.2:p.Val734Ala
ENST00000489037.2:c.5435T>C	ENSP00000420781.2:p.Val1812Ala
ENST00000493919.6:c.2063T>C	ENSP00000418819.2:p.Val688Ala
ENST00000494123.6:c.5513T>C	ENSP00000419103.2:p.Val1838Ala
ENST00000497488.2:c.4625T>C	ENSP00000418986.2:p.Val1542Ala
ENST00000618469.2:c.5513T>C	ENSP00000478114.2:p.Val1838Ala
ENST00000634433.2:c.5390T>C	ENSP00000489431.2:p.Val1797Ala
ENST00000644379.2:c.5579T>C	ENSP00000496570.2:p.Val1860Ala
ENST00000644555.2:c.2063T>C	ENSP00000494614.2:p.Val688Ala
ENST00000652672.2:c.5372T>C	ENSP00000498906.2:p.Val1791Ala
ENST00000484087.6:c.2075T>C	ENSP00000419481.2:p.Val692Ala
ENST00000700081.1:n.1396T>C
ENST00000700082.1:n.877T>C
ENST00000357654.9:c.5513T>C MANE Select	ENSP00000350283.3:p.Val1838Ala
ENST00000471181.7:c.5576T>C	ENSP00000418960.2:p.Val1859Ala
ENST00000644379.1:c.1900T>C
ENST00000352993.7:c.2087T>C	ENSP00000312236.5:p.Val696Ala
ENST00000357654.7:c.5513T>C	ENSP00000350283.3:p.Val1838Ala
ENST00000461221.5:c.*5296T>C	ENSP00000418548.1:n.*5296T>C
ENST00000468300.5:c.*27T>C	ENSP00000417148.1:n.*27T>C
ENST00000471181.6:c.5576T>C	ENSP00000418960.2:p.Val1859Ala
ENST00000491747.6:c.2201T>C	ENSP00000420705.2:p.Val734Ala
ENST00000493795.5:c.5372T>C	ENSP00000418775.1:p.Val1791Ala
ENST00000586385.5:c.443T>C	ENSP00000465818.1:p.Val148Ala
ENST00000591534.5:c.986T>C	ENSP00000467329.1:p.Val329Ala
ENST00000591849.5:c.212T>C	ENSP00000465347.1:p.Val71Ala
NM_007294.3:c.5513T>C , LRG_292t1:c.5513T>C	NP_009225.1:p.Val1838Ala
NM_007297.3:c.5372T>C	NP_009228.2:p.Val1791Ala
NM_007298.3:c.2201T>C	NP_009229.2:p.Val734Ala
NM_007299.3:c.*27T>C	NP_009230.2:n.*27T>C
NM_007300.3:c.5576T>C	NP_009231.2:p.Val1859Ala
NR_027676.1:n.5649T>C
NM_007294.4:c.5513T>C MANE Select	NP_009225.1:p.Val1838Ala
NM_007297.4:c.5372T>C	NP_009228.2:p.Val1791Ala
NM_007299.4:c.*27T>C	NP_009230.2:n.*27T>C
NM_007300.4:c.5576T>C	NP_009231.2:p.Val1859Ala
NR_027676.2:n.5690T>C