Canonical Allele Identifier: CA10590644

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865469
• ClinVar RCV Id: RCV001072895
• dbSNP Id: rs2050994882
• MyVariant Identifiers: chr17:g.41199717C>A (hg19) ; chr17:g.43047700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047700C>A , CM000679.2:g.43047700C>A	GRCh38
NC_000017.10:g.41199717C>A , CM000679.1:g.41199717C>A	GRCh37
NC_000017.9:g.38453243C>A	NCBI36
NG_005905.2:g.170284G>T , LRG_292:g.170284G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5407G>T	ENSP00000417241.2:p.Val1803Phe
ENST00000470026.6:c.5410G>T	ENSP00000419274.2:p.Val1804Phe
ENST00000473961.6:c.5284G>T	ENSP00000420201.2:p.Val1762Phe
ENST00000476777.6:c.5404G>T	ENSP00000417554.2:p.Val1802Phe
ENST00000477152.6:c.5332G>T	ENSP00000419988.2:p.Val1778Phe
ENST00000478531.6:c.2098G>T	ENSP00000420412.2:p.Val700Phe
ENST00000489037.2:c.5332G>T	ENSP00000420781.2:p.Val1778Phe
ENST00000493919.6:c.1960G>T	ENSP00000418819.2:p.Val654Phe
ENST00000494123.6:c.5410G>T	ENSP00000419103.2:p.Val1804Phe
ENST00000497488.2:c.4522G>T	ENSP00000418986.2:p.Val1508Phe
ENST00000618469.2:c.5410G>T	ENSP00000478114.2:p.Val1804Phe
ENST00000634433.2:c.5287G>T	ENSP00000489431.2:p.Val1763Phe
ENST00000644379.2:c.5476G>T	ENSP00000496570.2:p.Val1826Phe
ENST00000644555.2:c.1960G>T	ENSP00000494614.2:p.Val654Phe
ENST00000652672.2:c.5269G>T	ENSP00000498906.2:p.Val1757Phe
ENST00000484087.6:c.1972G>T	ENSP00000419481.2:p.Val658Phe
ENST00000700081.1:n.1293G>T
ENST00000700082.1:n.774G>T
ENST00000357654.9:c.5410G>T MANE Select	ENSP00000350283.3:p.Val1804Phe
ENST00000471181.7:c.5473G>T	ENSP00000418960.2:p.Val1825Phe
ENST00000644379.1:c.1797G>T
ENST00000352993.7:c.1984G>T	ENSP00000312236.5:p.Val662Phe
ENST00000357654.7:c.5410G>T	ENSP00000350283.3:p.Val1804Phe
ENST00000461221.5:c.*5193G>T	ENSP00000418548.1:n.*5193G>T
ENST00000468300.5:c.2024G>T	ENSP00000417148.1:p.Cys675Phe
ENST00000471181.6:c.5473G>T	ENSP00000418960.2:p.Val1825Phe
ENST00000491747.6:c.2098G>T	ENSP00000420705.2:p.Val700Phe
ENST00000493795.5:c.5269G>T	ENSP00000418775.1:p.Val1757Phe
ENST00000586385.5:c.340G>T	ENSP00000465818.1:p.Val114Phe
ENST00000591534.5:c.883G>T	ENSP00000467329.1:p.Val295Phe
ENST00000591849.5:c.109G>T	ENSP00000465347.1:p.Val37Phe
NM_007294.3:c.5410G>T , LRG_292t1:c.5410G>T	NP_009225.1:p.Val1804Phe
NM_007297.3:c.5269G>T	NP_009228.2:p.Val1757Phe
NM_007298.3:c.2098G>T	NP_009229.2:p.Val700Phe
NM_007299.3:c.2024G>T	NP_009230.2:p.Cys675Phe
NM_007300.3:c.5473G>T	NP_009231.2:p.Val1825Phe
NR_027676.1:n.5546G>T
NM_007294.4:c.5410G>T MANE Select	NP_009225.1:p.Val1804Phe
NM_007297.4:c.5269G>T	NP_009228.2:p.Val1757Phe
NM_007299.4:c.2024G>T	NP_009230.2:p.Cys675Phe
NM_007300.4:c.5473G>T	NP_009231.2:p.Val1825Phe
NR_027676.2:n.5587G>T