Canonical Allele Identifier: CA10591534

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868504
• ClinVar RCV Id: RCV001077417
• dbSNP Id: rs80357314
• MyVariant Identifiers: chr17:g.41219708A>C (hg19) ; chr17:g.43067691A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067691A>C , CM000679.2:g.43067691A>C	GRCh38
NC_000017.10:g.41219708A>C , CM000679.1:g.41219708A>C	GRCh37
NC_000017.9:g.38473234A>C	NCBI36
NG_005905.2:g.150293T>G , LRG_292:g.150293T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4988T>G	ENSP00000417241.2:p.Leu1663Arg
ENST00000470026.6:c.4991T>G	ENSP00000419274.2:p.Leu1664Arg
ENST00000473961.6:c.4865T>G	ENSP00000420201.2:p.Leu1622Arg
ENST00000476777.6:c.4985T>G	ENSP00000417554.2:p.Leu1662Arg
ENST00000477152.6:c.4913T>G	ENSP00000419988.2:p.Leu1638Arg
ENST00000478531.6:c.1679T>G	ENSP00000420412.2:p.Leu560Arg
ENST00000489037.2:c.4913T>G	ENSP00000420781.2:p.Leu1638Arg
ENST00000493919.6:c.1541T>G	ENSP00000418819.2:p.Leu514Arg
ENST00000494123.6:c.4991T>G	ENSP00000419103.2:p.Leu1664Arg
ENST00000497488.2:c.4103T>G	ENSP00000418986.2:p.Leu1368Arg
ENST00000618469.2:c.4991T>G	ENSP00000478114.2:p.Leu1664Arg
ENST00000634433.2:c.4868T>G	ENSP00000489431.2:p.Leu1623Arg
ENST00000644379.2:c.5057T>G	ENSP00000496570.2:p.Leu1686Arg
ENST00000644555.2:c.1541T>G	ENSP00000494614.2:p.Leu514Arg
ENST00000652672.2:c.4850T>G	ENSP00000498906.2:p.Leu1617Arg
ENST00000484087.6:c.1553T>G	ENSP00000419481.2:p.Leu518Arg
ENST00000357654.9:c.4991T>G MANE Select	ENSP00000350283.3:p.Leu1664Arg
ENST00000471181.7:c.5054T>G	ENSP00000418960.2:p.Leu1685Arg
ENST00000644379.1:c.1378T>G
ENST00000352993.7:c.1565T>G	ENSP00000312236.5:p.Leu522Arg
ENST00000357654.7:c.4991T>G	ENSP00000350283.3:p.Leu1664Arg
ENST00000461221.5:c.*4774T>G	ENSP00000418548.1:n.*4774T>G
ENST00000468300.5:c.1679T>G	ENSP00000417148.1:p.Leu560Arg
ENST00000471181.6:c.5054T>G	ENSP00000418960.2:p.Leu1685Arg
ENST00000472490.1:n.144T>G
ENST00000478531.5:c.1679T>G	ENSP00000420412.1:p.Leu560Arg
ENST00000484087.5:c.1304T>G	ENSP00000419481.1:p.Leu435Arg
ENST00000491747.6:c.1679T>G	ENSP00000420705.2:p.Leu560Arg
ENST00000493795.5:c.4850T>G	ENSP00000418775.1:p.Leu1617Arg
ENST00000493919.5:c.1541T>G	ENSP00000418819.1:p.Leu514Arg
ENST00000586385.5:c.5-3740T>G	ENSP00000465818.1:n.5-3740T>G
ENST00000591534.5:c.464T>G	ENSP00000467329.1:p.Leu155Arg
ENST00000591849.5:c.-98-17501T>G	ENSP00000465347.1:n.-98-17501T>G
NM_007294.3:c.4991T>G , LRG_292t1:c.4991T>G	NP_009225.1:p.Leu1664Arg
NM_007297.3:c.4850T>G	NP_009228.2:p.Leu1617Arg
NM_007298.3:c.1679T>G	NP_009229.2:p.Leu560Arg
NM_007299.3:c.1679T>G	NP_009230.2:p.Leu560Arg
NM_007300.3:c.5054T>G	NP_009231.2:p.Leu1685Arg
NR_027676.1:n.5127T>G
NM_007294.4:c.4991T>G MANE Select	NP_009225.1:p.Leu1664Arg
NM_007297.4:c.4850T>G	NP_009228.2:p.Leu1617Arg
NM_007299.4:c.1679T>G	NP_009230.2:p.Leu560Arg
NM_007300.4:c.5054T>G	NP_009231.2:p.Leu1685Arg
NR_027676.2:n.5168T>G