Canonical Allele Identifier: CA10590599

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 489731
• ClinVar RCV Id: RCV000580194 ; RCV000804227 ; RCV003459418 ; RCV003478305
• dbSNP Id: rs1555574756
• MyVariant Identifiers: chr17:g.41199705C>A (hg19) ; chr17:g.43047688C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047688C>A , CM000679.2:g.43047688C>A	GRCh38
NC_000017.10:g.41199705C>A , CM000679.1:g.41199705C>A	GRCh37
NC_000017.9:g.38453231C>A	NCBI36
NG_005905.2:g.170296G>T , LRG_292:g.170296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5419G>T	ENSP00000417241.2:p.Val1807Leu
ENST00000470026.6:c.5422G>T	ENSP00000419274.2:p.Val1808Leu
ENST00000473961.6:c.5296G>T	ENSP00000420201.2:p.Val1766Leu
ENST00000476777.6:c.5416G>T	ENSP00000417554.2:p.Val1806Leu
ENST00000477152.6:c.5344G>T	ENSP00000419988.2:p.Val1782Leu
ENST00000478531.6:c.2110G>T	ENSP00000420412.2:p.Val704Leu
ENST00000489037.2:c.5344G>T	ENSP00000420781.2:p.Val1782Leu
ENST00000493919.6:c.1972G>T	ENSP00000418819.2:p.Val658Leu
ENST00000494123.6:c.5422G>T	ENSP00000419103.2:p.Val1808Leu
ENST00000497488.2:c.4534G>T	ENSP00000418986.2:p.Val1512Leu
ENST00000618469.2:c.5422G>T	ENSP00000478114.2:p.Val1808Leu
ENST00000634433.2:c.5299G>T	ENSP00000489431.2:p.Val1767Leu
ENST00000644379.2:c.5488G>T	ENSP00000496570.2:p.Val1830Leu
ENST00000644555.2:c.1972G>T	ENSP00000494614.2:p.Val658Leu
ENST00000652672.2:c.5281G>T	ENSP00000498906.2:p.Val1761Leu
ENST00000484087.6:c.1984G>T	ENSP00000419481.2:p.Val662Leu
ENST00000700081.1:n.1305G>T
ENST00000700082.1:n.786G>T
ENST00000357654.9:c.5422G>T MANE Select	ENSP00000350283.3:p.Val1808Leu
ENST00000471181.7:c.5485G>T	ENSP00000418960.2:p.Val1829Leu
ENST00000644379.1:c.1809G>T
ENST00000352993.7:c.1996G>T	ENSP00000312236.5:p.Val666Leu
ENST00000357654.7:c.5422G>T	ENSP00000350283.3:p.Val1808Leu
ENST00000461221.5:c.*5205G>T	ENSP00000418548.1:n.*5205G>T
ENST00000468300.5:c.2036G>T	ENSP00000417148.1:p.Cys679Phe
ENST00000471181.6:c.5485G>T	ENSP00000418960.2:p.Val1829Leu
ENST00000491747.6:c.2110G>T	ENSP00000420705.2:p.Val704Leu
ENST00000493795.5:c.5281G>T	ENSP00000418775.1:p.Val1761Leu
ENST00000586385.5:c.352G>T	ENSP00000465818.1:p.Val118Leu
ENST00000591534.5:c.895G>T	ENSP00000467329.1:p.Val299Leu
ENST00000591849.5:c.121G>T	ENSP00000465347.1:p.Val41Leu
NM_007294.3:c.5422G>T , LRG_292t1:c.5422G>T	NP_009225.1:p.Val1808Leu
NM_007297.3:c.5281G>T	NP_009228.2:p.Val1761Leu
NM_007298.3:c.2110G>T	NP_009229.2:p.Val704Leu
NM_007299.3:c.2036G>T	NP_009230.2:p.Cys679Phe
NM_007300.3:c.5485G>T	NP_009231.2:p.Val1829Leu
NR_027676.1:n.5558G>T
NM_007294.4:c.5422G>T MANE Select	NP_009225.1:p.Val1808Leu
NM_007297.4:c.5281G>T	NP_009228.2:p.Val1761Leu
NM_007299.4:c.2036G>T	NP_009230.2:p.Cys679Phe
NM_007300.4:c.5485G>T	NP_009231.2:p.Val1829Leu
NR_027676.2:n.5599G>T