Canonical Allele Identifier: CA003690

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55611
• ClinVar RCV Id: RCV000077628 ; RCV000480633 ; RCV001181282 ; RCV001853026
• dbSNP Id: rs80357107
• MyVariant Identifiers: chr17:g.41197774A>T (hg19) ; chr17:g.43045757A>T (hg38)
• PubMed: PMID:21990134

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5510T>A	ENSP00000417241.2:p.Val1837Glu
ENST00000470026.6:c.5513T>A	ENSP00000419274.2:p.Val1838Glu
ENST00000473961.6:c.5387T>A	ENSP00000420201.2:p.Val1796Glu
ENST00000476777.6:c.5507T>A	ENSP00000417554.2:p.Val1836Glu
ENST00000477152.6:c.5435T>A	ENSP00000419988.2:p.Val1812Glu
ENST00000478531.6:c.2201T>A	ENSP00000420412.2:p.Val734Glu
ENST00000489037.2:c.5435T>A	ENSP00000420781.2:p.Val1812Glu
ENST00000493919.6:c.2063T>A	ENSP00000418819.2:p.Val688Glu
ENST00000494123.6:c.5513T>A	ENSP00000419103.2:p.Val1838Glu
ENST00000497488.2:c.4625T>A	ENSP00000418986.2:p.Val1542Glu
ENST00000618469.2:c.5513T>A	ENSP00000478114.2:p.Val1838Glu
ENST00000634433.2:c.5390T>A	ENSP00000489431.2:p.Val1797Glu
ENST00000644379.2:c.5579T>A	ENSP00000496570.2:p.Val1860Glu
ENST00000644555.2:c.2063T>A	ENSP00000494614.2:p.Val688Glu
ENST00000652672.2:c.5372T>A	ENSP00000498906.2:p.Val1791Glu
ENST00000484087.6:c.2075T>A	ENSP00000419481.2:p.Val692Glu
ENST00000700081.1:n.1396T>A
ENST00000700082.1:n.877T>A
ENST00000357654.9:c.5513T>A MANE Select	ENSP00000350283.3:p.Val1838Glu
ENST00000471181.7:c.5576T>A	ENSP00000418960.2:p.Val1859Glu
ENST00000644379.1:c.1900T>A
ENST00000352993.7:c.2087T>A	ENSP00000312236.5:p.Val696Glu
ENST00000357654.7:c.5513T>A	ENSP00000350283.3:p.Val1838Glu
ENST00000461221.5:c.*5296T>A	ENSP00000418548.1:n.*5296T>A
ENST00000468300.5:c.*27T>A	ENSP00000417148.1:n.*27T>A
ENST00000471181.6:c.5576T>A	ENSP00000418960.2:p.Val1859Glu
ENST00000491747.6:c.2201T>A	ENSP00000420705.2:p.Val734Glu
ENST00000493795.5:c.5372T>A	ENSP00000418775.1:p.Val1791Glu
ENST00000586385.5:c.443T>A	ENSP00000465818.1:p.Val148Glu
ENST00000591534.5:c.986T>A	ENSP00000467329.1:p.Val329Glu
ENST00000591849.5:c.212T>A	ENSP00000465347.1:p.Val71Glu
NM_007294.3:c.5513T>A , LRG_292t1:c.5513T>A	NP_009225.1:p.Val1838Glu
NM_007297.3:c.5372T>A	NP_009228.2:p.Val1791Glu
NM_007298.3:c.2201T>A	NP_009229.2:p.Val734Glu
NM_007299.3:c.*27T>A	NP_009230.2:n.*27T>A
NM_007300.3:c.5576T>A	NP_009231.2:p.Val1859Glu
NR_027676.1:n.5649T>A
NM_007294.4:c.5513T>A MANE Select	NP_009225.1:p.Val1838Glu
NM_007297.4:c.5372T>A	NP_009228.2:p.Val1791Glu
NM_007299.4:c.*27T>A	NP_009230.2:n.*27T>A
NM_007300.4:c.5576T>A	NP_009231.2:p.Val1859Glu
NR_027676.2:n.5690T>A