Canonical Allele Identifier: CA10583546

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 240822
• ClinVar RCV Id: RCV000230445 ; RCV001072911 ; RCV002347900
• dbSNP Id: rs28897698
• MyVariant Identifiers: chr17:g.41199702C>T (hg19) ; chr17:g.43047685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047685C>T , CM000679.2:g.43047685C>T	GRCh38
NC_000017.10:g.41199702C>T , CM000679.1:g.41199702C>T	GRCh37
NC_000017.9:g.38453228C>T	NCBI36
NG_005905.2:g.170299G>A , LRG_292:g.170299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5422G>A	ENSP00000417241.2:p.Val1808Ile
ENST00000470026.6:c.5425G>A	ENSP00000419274.2:p.Val1809Ile
ENST00000473961.6:c.5299G>A	ENSP00000420201.2:p.Val1767Ile
ENST00000476777.6:c.5419G>A	ENSP00000417554.2:p.Val1807Ile
ENST00000477152.6:c.5347G>A	ENSP00000419988.2:p.Val1783Ile
ENST00000478531.6:c.2113G>A	ENSP00000420412.2:p.Val705Ile
ENST00000489037.2:c.5347G>A	ENSP00000420781.2:p.Val1783Ile
ENST00000493919.6:c.1975G>A	ENSP00000418819.2:p.Val659Ile
ENST00000494123.6:c.5425G>A	ENSP00000419103.2:p.Val1809Ile
ENST00000497488.2:c.4537G>A	ENSP00000418986.2:p.Val1513Ile
ENST00000618469.2:c.5425G>A	ENSP00000478114.2:p.Val1809Ile
ENST00000634433.2:c.5302G>A	ENSP00000489431.2:p.Val1768Ile
ENST00000644379.2:c.5491G>A	ENSP00000496570.2:p.Val1831Ile
ENST00000644555.2:c.1975G>A	ENSP00000494614.2:p.Val659Ile
ENST00000652672.2:c.5284G>A	ENSP00000498906.2:p.Val1762Ile
ENST00000484087.6:c.1987G>A	ENSP00000419481.2:p.Val663Ile
ENST00000700081.1:n.1308G>A
ENST00000700082.1:n.789G>A
ENST00000357654.9:c.5425G>A MANE Select	ENSP00000350283.3:p.Val1809Ile
ENST00000471181.7:c.5488G>A	ENSP00000418960.2:p.Val1830Ile
ENST00000644379.1:c.1812G>A
ENST00000352993.7:c.1999G>A	ENSP00000312236.5:p.Val667Ile
ENST00000357654.7:c.5425G>A	ENSP00000350283.3:p.Val1809Ile
ENST00000461221.5:c.*5208G>A	ENSP00000418548.1:n.*5208G>A
ENST00000468300.5:c.2039G>A	ENSP00000417148.1:p.Gly680Asp
ENST00000471181.6:c.5488G>A	ENSP00000418960.2:p.Val1830Ile
ENST00000491747.6:c.2113G>A	ENSP00000420705.2:p.Val705Ile
ENST00000493795.5:c.5284G>A	ENSP00000418775.1:p.Val1762Ile
ENST00000586385.5:c.355G>A	ENSP00000465818.1:p.Val119Ile
ENST00000591534.5:c.898G>A	ENSP00000467329.1:p.Val300Ile
ENST00000591849.5:c.124G>A	ENSP00000465347.1:p.Val42Ile
NM_007294.3:c.5425G>A , LRG_292t1:c.5425G>A	NP_009225.1:p.Val1809Ile
NM_007297.3:c.5284G>A	NP_009228.2:p.Val1762Ile
NM_007298.3:c.2113G>A	NP_009229.2:p.Val705Ile
NM_007299.3:c.2039G>A	NP_009230.2:p.Gly680Asp
NM_007300.3:c.5488G>A	NP_009231.2:p.Val1830Ile
NR_027676.1:n.5561G>A
NM_007294.4:c.5425G>A MANE Select	NP_009225.1:p.Val1809Ile
NM_007297.4:c.5284G>A	NP_009228.2:p.Val1762Ile
NM_007299.4:c.2039G>A	NP_009230.2:p.Gly680Asp
NM_007300.4:c.5488G>A	NP_009231.2:p.Val1830Ile
NR_027676.2:n.5602G>A