Canonical Allele Identifier: CA10590939

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865287
• ClinVar RCV Id: RCV001072675
• dbSNP Id: rs2051204673
• MyVariant Identifiers: chr17:g.41203107A>T (hg19) ; chr17:g.43051090A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051090A>T , CM000679.2:g.43051090A>T	GRCh38
NC_000017.10:g.41203107A>T , CM000679.1:g.41203107A>T	GRCh37
NC_000017.9:g.38456633A>T	NCBI36
NG_005905.2:g.166894T>A , LRG_292:g.166894T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5302T>A	ENSP00000417241.2:p.Tyr1768Asn
ENST00000470026.6:c.5305T>A	ENSP00000419274.2:p.Tyr1769Asn
ENST00000473961.6:c.5179T>A	ENSP00000420201.2:p.Tyr1727Asn
ENST00000476777.6:c.5299T>A	ENSP00000417554.2:p.Tyr1767Asn
ENST00000477152.6:c.5227T>A	ENSP00000419988.2:p.Tyr1743Asn
ENST00000478531.6:c.1993T>A	ENSP00000420412.2:p.Tyr665Asn
ENST00000489037.2:c.5227T>A	ENSP00000420781.2:p.Tyr1743Asn
ENST00000493919.6:c.1855T>A	ENSP00000418819.2:p.Tyr619Asn
ENST00000494123.6:c.5305T>A	ENSP00000419103.2:p.Tyr1769Asn
ENST00000497488.2:c.4417T>A	ENSP00000418986.2:p.Tyr1473Asn
ENST00000618469.2:c.5305T>A	ENSP00000478114.2:p.Tyr1769Asn
ENST00000634433.2:c.5182T>A	ENSP00000489431.2:p.Tyr1728Asn
ENST00000644379.2:c.5371T>A	ENSP00000496570.2:p.Tyr1791Asn
ENST00000644555.2:c.1855T>A	ENSP00000494614.2:p.Tyr619Asn
ENST00000652672.2:c.5164T>A	ENSP00000498906.2:p.Tyr1722Asn
ENST00000484087.6:c.1867T>A	ENSP00000419481.2:p.Tyr623Asn
ENST00000357654.9:c.5305T>A MANE Select	ENSP00000350283.3:p.Tyr1769Asn
ENST00000471181.7:c.5368T>A	ENSP00000418960.2:p.Tyr1790Asn
ENST00000644379.1:c.1692T>A
ENST00000352993.7:c.1879T>A	ENSP00000312236.5:p.Tyr627Asn
ENST00000357654.7:c.5305T>A	ENSP00000350283.3:p.Tyr1769Asn
ENST00000461221.5:c.*5088T>A	ENSP00000418548.1:n.*5088T>A
ENST00000468300.5:c.1993T>A	ENSP00000417148.1:p.Tyr665Asn
ENST00000471181.6:c.5368T>A	ENSP00000418960.2:p.Tyr1790Asn
ENST00000491747.6:c.1993T>A	ENSP00000420705.2:p.Tyr665Asn
ENST00000493795.5:c.5164T>A	ENSP00000418775.1:p.Tyr1722Asn
ENST00000586385.5:c.235T>A	ENSP00000465818.1:p.Tyr79Asn
ENST00000591534.5:c.778T>A	ENSP00000467329.1:p.Tyr260Asn
ENST00000591849.5:c.-98-900T>A	ENSP00000465347.1:n.-98-900T>A
NM_007294.3:c.5305T>A , LRG_292t1:c.5305T>A	NP_009225.1:p.Tyr1769Asn
NM_007297.3:c.5164T>A	NP_009228.2:p.Tyr1722Asn
NM_007298.3:c.1993T>A	NP_009229.2:p.Tyr665Asn
NM_007299.3:c.1993T>A	NP_009230.2:p.Tyr665Asn
NM_007300.3:c.5368T>A	NP_009231.2:p.Tyr1790Asn
NR_027676.1:n.5441T>A
NM_007294.4:c.5305T>A MANE Select	NP_009225.1:p.Tyr1769Asn
NM_007297.4:c.5164T>A	NP_009228.2:p.Tyr1722Asn
NM_007299.4:c.1993T>A	NP_009230.2:p.Tyr665Asn
NM_007300.4:c.5368T>A	NP_009231.2:p.Tyr1790Asn
NR_027676.2:n.5482T>A