Canonical Allele Identifier: CA10590273

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 869005
• ClinVar RCV Id: RCV001078026
• dbSNP Id: rs878854960
• MyVariant Identifiers: chr17:g.41197764A>T (hg19) ; chr17:g.43045747A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045747A>T , CM000679.2:g.43045747A>T	GRCh38
NC_000017.10:g.41197764A>T , CM000679.1:g.41197764A>T	GRCh37
NC_000017.9:g.38451290A>T	NCBI36
NG_005905.2:g.172237T>A , LRG_292:g.172237T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5520T>A	ENSP00000417241.2:p.Ser1840Arg
ENST00000470026.6:c.5523T>A	ENSP00000419274.2:p.Ser1841Arg
ENST00000473961.6:c.5397T>A	ENSP00000420201.2:p.Ser1799Arg
ENST00000476777.6:c.5517T>A	ENSP00000417554.2:p.Ser1839Arg
ENST00000477152.6:c.5445T>A	ENSP00000419988.2:p.Ser1815Arg
ENST00000478531.6:c.2211T>A	ENSP00000420412.2:p.Ser737Arg
ENST00000489037.2:c.5445T>A	ENSP00000420781.2:p.Ser1815Arg
ENST00000493919.6:c.2073T>A	ENSP00000418819.2:p.Ser691Arg
ENST00000494123.6:c.5523T>A	ENSP00000419103.2:p.Ser1841Arg
ENST00000497488.2:c.4635T>A	ENSP00000418986.2:p.Ser1545Arg
ENST00000618469.2:c.5523T>A	ENSP00000478114.2:p.Ser1841Arg
ENST00000634433.2:c.5400T>A	ENSP00000489431.2:p.Ser1800Arg
ENST00000644379.2:c.5589T>A	ENSP00000496570.2:p.Ser1863Arg
ENST00000644555.2:c.2073T>A	ENSP00000494614.2:p.Ser691Arg
ENST00000652672.2:c.5382T>A	ENSP00000498906.2:p.Ser1794Arg
ENST00000484087.6:c.2085T>A	ENSP00000419481.2:p.Ser695Arg
ENST00000700081.1:n.1406T>A
ENST00000700082.1:n.887T>A
ENST00000357654.9:c.5523T>A MANE Select	ENSP00000350283.3:p.Ser1841Arg
ENST00000471181.7:c.5586T>A	ENSP00000418960.2:p.Ser1862Arg
ENST00000644379.1:c.1910T>A
ENST00000352993.7:c.2097T>A	ENSP00000312236.5:p.Ser699Arg
ENST00000357654.7:c.5523T>A	ENSP00000350283.3:p.Ser1841Arg
ENST00000461221.5:c.*5306T>A	ENSP00000418548.1:n.*5306T>A
ENST00000468300.5:c.*37T>A	ENSP00000417148.1:n.*37T>A
ENST00000471181.6:c.5586T>A	ENSP00000418960.2:p.Ser1862Arg
ENST00000491747.6:c.2211T>A	ENSP00000420705.2:p.Ser737Arg
ENST00000493795.5:c.5382T>A	ENSP00000418775.1:p.Ser1794Arg
ENST00000586385.5:c.453T>A	ENSP00000465818.1:p.Ser151Arg
ENST00000591534.5:c.996T>A	ENSP00000467329.1:p.Ser332Arg
ENST00000591849.5:c.222T>A	ENSP00000465347.1:p.Ser74Arg
NM_007294.3:c.5523T>A , LRG_292t1:c.5523T>A	NP_009225.1:p.Ser1841Arg
NM_007297.3:c.5382T>A	NP_009228.2:p.Ser1794Arg
NM_007298.3:c.2211T>A	NP_009229.2:p.Ser737Arg
NM_007299.3:c.*37T>A	NP_009230.2:n.*37T>A
NM_007300.3:c.5586T>A	NP_009231.2:p.Ser1862Arg
NR_027676.1:n.5659T>A
NM_007294.4:c.5523T>A MANE Select	NP_009225.1:p.Ser1841Arg
NM_007297.4:c.5382T>A	NP_009228.2:p.Ser1794Arg
NM_007299.4:c.*37T>A	NP_009230.2:n.*37T>A
NM_007300.4:c.5586T>A	NP_009231.2:p.Ser1862Arg
NR_027676.2:n.5700T>A