Canonical Allele Identifier: CA10590464

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868911
• ClinVar RCV Id: RCV001077907 ; RCV001299941
• dbSNP Id: rs1597799334
• MyVariant Identifiers: chr17:g.41199670A>T (hg19) ; chr17:g.43047653A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047653A>T , CM000679.2:g.43047653A>T	GRCh38
NC_000017.10:g.41199670A>T , CM000679.1:g.41199670A>T	GRCh37
NC_000017.9:g.38453196A>T	NCBI36
NG_005905.2:g.170331T>A , LRG_292:g.170331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5454T>A	ENSP00000417241.2:p.Asn1818Lys
ENST00000470026.6:c.5457T>A	ENSP00000419274.2:p.Asn1819Lys
ENST00000473961.6:c.5331T>A	ENSP00000420201.2:p.Asn1777Lys
ENST00000476777.6:c.5451T>A	ENSP00000417554.2:p.Asn1817Lys
ENST00000477152.6:c.5379T>A	ENSP00000419988.2:p.Asn1793Lys
ENST00000478531.6:c.2145T>A	ENSP00000420412.2:p.Asn715Lys
ENST00000489037.2:c.5379T>A	ENSP00000420781.2:p.Asn1793Lys
ENST00000493919.6:c.2007T>A	ENSP00000418819.2:p.Asn669Lys
ENST00000494123.6:c.5457T>A	ENSP00000419103.2:p.Asn1819Lys
ENST00000497488.2:c.4569T>A	ENSP00000418986.2:p.Asn1523Lys
ENST00000618469.2:c.5457T>A	ENSP00000478114.2:p.Asn1819Lys
ENST00000634433.2:c.5334T>A	ENSP00000489431.2:p.Asn1778Lys
ENST00000644379.2:c.5523T>A	ENSP00000496570.2:p.Asn1841Lys
ENST00000644555.2:c.2007T>A	ENSP00000494614.2:p.Asn669Lys
ENST00000652672.2:c.5316T>A	ENSP00000498906.2:p.Asn1772Lys
ENST00000484087.6:c.2019T>A	ENSP00000419481.2:p.Asn673Lys
ENST00000700081.1:n.1340T>A
ENST00000700082.1:n.821T>A
ENST00000357654.9:c.5457T>A MANE Select	ENSP00000350283.3:p.Asn1819Lys
ENST00000471181.7:c.5520T>A	ENSP00000418960.2:p.Asn1840Lys
ENST00000644379.1:c.1844T>A
ENST00000352993.7:c.2031T>A	ENSP00000312236.5:p.Asn677Lys
ENST00000357654.7:c.5457T>A	ENSP00000350283.3:p.Asn1819Lys
ENST00000461221.5:c.*5240T>A	ENSP00000418548.1:n.*5240T>A
ENST00000468300.5:c.2071T>A	ENSP00000417148.1:p.Trp691Arg
ENST00000471181.6:c.5520T>A	ENSP00000418960.2:p.Asn1840Lys
ENST00000491747.6:c.2145T>A	ENSP00000420705.2:p.Asn715Lys
ENST00000493795.5:c.5316T>A	ENSP00000418775.1:p.Asn1772Lys
ENST00000586385.5:c.387T>A	ENSP00000465818.1:p.Asn129Lys
ENST00000591534.5:c.930T>A	ENSP00000467329.1:p.Asn310Lys
ENST00000591849.5:c.156T>A	ENSP00000465347.1:p.Asn52Lys
NM_007294.3:c.5457T>A , LRG_292t1:c.5457T>A	NP_009225.1:p.Asn1819Lys
NM_007297.3:c.5316T>A	NP_009228.2:p.Asn1772Lys
NM_007298.3:c.2145T>A	NP_009229.2:p.Asn715Lys
NM_007299.3:c.2071T>A	NP_009230.2:p.Trp691Arg
NM_007300.3:c.5520T>A	NP_009231.2:p.Asn1840Lys
NR_027676.1:n.5593T>A
NM_007294.4:c.5457T>A MANE Select	NP_009225.1:p.Asn1819Lys
NM_007297.4:c.5316T>A	NP_009228.2:p.Asn1772Lys
NM_007299.4:c.2071T>A	NP_009230.2:p.Trp691Arg
NM_007300.4:c.5520T>A	NP_009231.2:p.Asn1840Lys
NR_027676.2:n.5634T>A