Canonical Allele Identifier: CA10592350

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1015826
• ClinVar RCV Id: RCV001314741 ; RCV003339591
• dbSNP Id: rs1060504560
• COSMIC: COSM6147018 ; COSM6147019
• MyVariant Identifiers: chr17:g.41226442C>A (hg19) ; chr17:g.43074425C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074425C>A , CM000679.2:g.43074425C>A	GRCh38
NC_000017.10:g.41226442C>A , CM000679.1:g.41226442C>A	GRCh37
NC_000017.9:g.38479968C>A	NCBI36
NG_005905.2:g.143559G>T , LRG_292:g.143559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4578G>T	ENSP00000417241.2:p.Glu1526Asp
ENST00000470026.6:c.4581G>T	ENSP00000419274.2:p.Glu1527Asp
ENST00000473961.6:c.4455G>T	ENSP00000420201.2:p.Glu1485Asp
ENST00000476777.6:c.4575G>T	ENSP00000417554.2:p.Glu1525Asp
ENST00000477152.6:c.4503G>T	ENSP00000419988.2:p.Glu1501Asp
ENST00000478531.6:c.1269G>T	ENSP00000420412.2:p.Glu423Asp
ENST00000489037.2:c.4503G>T	ENSP00000420781.2:p.Glu1501Asp
ENST00000493919.6:c.1131G>T	ENSP00000418819.2:p.Glu377Asp
ENST00000494123.6:c.4581G>T	ENSP00000419103.2:p.Glu1527Asp
ENST00000497488.2:c.3693G>T	ENSP00000418986.2:p.Glu1231Asp
ENST00000618469.2:c.4581G>T	ENSP00000478114.2:p.Glu1527Asp
ENST00000634433.2:c.4458G>T	ENSP00000489431.2:p.Glu1486Asp
ENST00000644379.2:c.4647G>T	ENSP00000496570.2:p.Glu1549Asp
ENST00000644555.2:c.1131G>T	ENSP00000494614.2:p.Glu377Asp
ENST00000652672.2:c.4440G>T	ENSP00000498906.2:p.Glu1480Asp
ENST00000484087.6:c.1143G>T	ENSP00000419481.2:p.Glu381Asp
ENST00000700182.1:c.1188G>T	ENSP00000514849.1:p.Glu396Asp
ENST00000357654.9:c.4581G>T MANE Select	ENSP00000350283.3:p.Glu1527Asp
ENST00000471181.7:c.4644G>T	ENSP00000418960.2:p.Glu1548Asp
ENST00000644379.1:c.968G>T
ENST00000352993.7:c.1155G>T	ENSP00000312236.5:p.Glu385Asp
ENST00000357654.7:c.4581G>T	ENSP00000350283.3:p.Glu1527Asp
ENST00000461221.5:c.*4364G>T	ENSP00000418548.1:n.*4364G>T
ENST00000468300.5:c.1269G>T	ENSP00000417148.1:p.Glu423Asp
ENST00000471181.6:c.4644G>T	ENSP00000418960.2:p.Glu1548Asp
ENST00000478531.5:c.1269G>T	ENSP00000420412.1:p.Glu423Asp
ENST00000484087.5:c.894G>T	ENSP00000419481.1:p.Glu298Asp
ENST00000491747.6:c.1269G>T	ENSP00000420705.2:p.Glu423Asp
ENST00000493795.5:c.4440G>T	ENSP00000418775.1:p.Glu1480Asp
ENST00000493919.5:c.1131G>T	ENSP00000418819.1:p.Glu377Asp
ENST00000586385.5:c.5-10474G>T	ENSP00000465818.1:n.5-10474G>T
ENST00000591534.5:c.54G>T	ENSP00000467329.1:p.Glu18Asp
ENST00000591849.5:c.-98-24235G>T	ENSP00000465347.1:n.-98-24235G>T
NM_007294.3:c.4581G>T , LRG_292t1:c.4581G>T	NP_009225.1:p.Glu1527Asp
NM_007297.3:c.4440G>T	NP_009228.2:p.Glu1480Asp
NM_007298.3:c.1269G>T	NP_009229.2:p.Glu423Asp
NM_007299.3:c.1269G>T	NP_009230.2:p.Glu423Asp
NM_007300.3:c.4644G>T	NP_009231.2:p.Glu1548Asp
NR_027676.1:n.4717G>T
NM_007294.4:c.4581G>T MANE Select	NP_009225.1:p.Glu1527Asp
NM_007297.4:c.4440G>T	NP_009228.2:p.Glu1480Asp
NM_007299.4:c.1269G>T	NP_009230.2:p.Glu423Asp
NM_007300.4:c.4644G>T	NP_009231.2:p.Glu1548Asp
NR_027676.2:n.4758G>T