Canonical Allele Identifier: CA10590633

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867379
• ClinVar RCV Id: RCV001076056
• dbSNP Id: rs397509281
• MyVariant Identifiers: chr17:g.41199713T>A (hg19) ; chr17:g.43047696T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047696T>A , CM000679.2:g.43047696T>A	GRCh38
NC_000017.10:g.41199713T>A , CM000679.1:g.41199713T>A	GRCh37
NC_000017.9:g.38453239T>A	NCBI36
NG_005905.2:g.170288A>T , LRG_292:g.170288A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5411A>T	ENSP00000417241.2:p.His1804Leu
ENST00000470026.6:c.5414A>T	ENSP00000419274.2:p.His1805Leu
ENST00000473961.6:c.5288A>T	ENSP00000420201.2:p.His1763Leu
ENST00000476777.6:c.5408A>T	ENSP00000417554.2:p.His1803Leu
ENST00000477152.6:c.5336A>T	ENSP00000419988.2:p.His1779Leu
ENST00000478531.6:c.2102A>T	ENSP00000420412.2:p.His701Leu
ENST00000489037.2:c.5336A>T	ENSP00000420781.2:p.His1779Leu
ENST00000493919.6:c.1964A>T	ENSP00000418819.2:p.His655Leu
ENST00000494123.6:c.5414A>T	ENSP00000419103.2:p.His1805Leu
ENST00000497488.2:c.4526A>T	ENSP00000418986.2:p.His1509Leu
ENST00000618469.2:c.5414A>T	ENSP00000478114.2:p.His1805Leu
ENST00000634433.2:c.5291A>T	ENSP00000489431.2:p.His1764Leu
ENST00000644379.2:c.5480A>T	ENSP00000496570.2:p.His1827Leu
ENST00000644555.2:c.1964A>T	ENSP00000494614.2:p.His655Leu
ENST00000652672.2:c.5273A>T	ENSP00000498906.2:p.His1758Leu
ENST00000484087.6:c.1976A>T	ENSP00000419481.2:p.His659Leu
ENST00000700081.1:n.1297A>T
ENST00000700082.1:n.778A>T
ENST00000357654.9:c.5414A>T MANE Select	ENSP00000350283.3:p.His1805Leu
ENST00000471181.7:c.5477A>T	ENSP00000418960.2:p.His1826Leu
ENST00000644379.1:c.1801A>T
ENST00000352993.7:c.1988A>T	ENSP00000312236.5:p.His663Leu
ENST00000357654.7:c.5414A>T	ENSP00000350283.3:p.His1805Leu
ENST00000461221.5:c.*5197A>T	ENSP00000418548.1:n.*5197A>T
ENST00000468300.5:c.2028A>T	ENSP00000417148.1:p.Pro676=
ENST00000471181.6:c.5477A>T	ENSP00000418960.2:p.His1826Leu
ENST00000491747.6:c.2102A>T	ENSP00000420705.2:p.His701Leu
ENST00000493795.5:c.5273A>T	ENSP00000418775.1:p.His1758Leu
ENST00000586385.5:c.344A>T	ENSP00000465818.1:p.His115Leu
ENST00000591534.5:c.887A>T	ENSP00000467329.1:p.His296Leu
ENST00000591849.5:c.113A>T	ENSP00000465347.1:p.His38Leu
NM_007294.3:c.5414A>T , LRG_292t1:c.5414A>T	NP_009225.1:p.His1805Leu
NM_007297.3:c.5273A>T	NP_009228.2:p.His1758Leu
NM_007298.3:c.2102A>T	NP_009229.2:p.His701Leu
NM_007299.3:c.2028A>T	NP_009230.2:p.Pro676=
NM_007300.3:c.5477A>T	NP_009231.2:p.His1826Leu
NR_027676.1:n.5550A>T
NM_007294.4:c.5414A>T MANE Select	NP_009225.1:p.His1805Leu
NM_007297.4:c.5273A>T	NP_009228.2:p.His1758Leu
NM_007299.4:c.2028A>T	NP_009230.2:p.Pro676=
NM_007300.4:c.5477A>T	NP_009231.2:p.His1826Leu
NR_027676.2:n.5591A>T