Canonical Allele Identifier: CA10601582

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 462596
• ClinVar RCV Id: RCV000531019 ; RCV001077804 ; RCV001770425 ; RCV002438341
• dbSNP Id: rs80357110
• COSMIC: COSM4391569 ; COSM4391570
• MyVariant Identifiers: chr17:g.41256900C>G (hg19) ; chr17:g.43104883C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104883C>G , CM000679.2:g.43104883C>G	GRCh38
NC_000017.10:g.41256900C>G , CM000679.1:g.41256900C>G	GRCh37
NC_000017.9:g.38510426C>G	NCBI36
NG_005905.2:g.113101G>C , LRG_292:g.113101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.350G>C
ENST00000461574.2:c.286G>C	ENSP00000417241.2:p.Asp96His
ENST00000470026.6:c.286G>C	ENSP00000419274.2:p.Asp96His
ENST00000473961.6:c.286G>C	ENSP00000420201.2:p.Asp96His
ENST00000476777.6:c.286G>C	ENSP00000417554.2:p.Asp96His
ENST00000477152.6:c.208G>C	ENSP00000419988.2:p.Asp70His
ENST00000478531.6:c.286G>C	ENSP00000420412.2:p.Asp96His
ENST00000489037.2:c.208G>C	ENSP00000420781.2:p.Asp70His
ENST00000493919.6:c.145G>C	ENSP00000418819.2:p.Asp49His
ENST00000494123.6:c.286G>C	ENSP00000419103.2:p.Asp96His
ENST00000497488.2:c.-218-10023G>C	ENSP00000418986.2:n.-218-10023G>C
ENST00000618469.2:c.286G>C	ENSP00000478114.2:p.Asp96His
ENST00000634433.2:c.286G>C	ENSP00000489431.2:p.Asp96His
ENST00000644379.2:c.286G>C	ENSP00000496570.2:p.Asp96His
ENST00000644555.2:c.145G>C	ENSP00000494614.2:p.Asp49His
ENST00000652672.2:c.145G>C	ENSP00000498906.2:p.Asp49His
ENST00000484087.6:c.286G>C	ENSP00000419481.2:p.Asp96His
ENST00000700083.1:n.1257G>C
ENST00000700182.1:c.208G>C	ENSP00000514849.1:p.Asp70His
ENST00000700183.1:c.*200G>C	ENSP00000514850.1:n.*200G>C
ENST00000700184.1:n.529G>C
ENST00000357654.9:c.286G>C MANE Select	ENSP00000350283.3:p.Asp96His
ENST00000471181.7:c.286G>C	ENSP00000418960.2:p.Asp96His
ENST00000642945.1:c.*160G>C	ENSP00000495897.1:n.*160G>C
ENST00000644555.1:c.145G>C	ENSP00000494614.1:p.Asp49His
ENST00000652672.1:c.145G>C	ENSP00000498906.1:p.Asp49His
ENST00000352993.7:c.286G>C	ENSP00000312236.5:p.Asp96His
ENST00000354071.7:c.286G>C	ENSP00000326002.7:p.Asp96His
ENST00000357654.7:c.286G>C	ENSP00000350283.3:p.Asp96His
ENST00000461221.5:c.*72G>C	ENSP00000418548.1:n.*72G>C
ENST00000461798.5:c.*72G>C	ENSP00000417988.1:n.*72G>C
ENST00000468300.5:c.286G>C	ENSP00000417148.1:p.Asp96His
ENST00000470026.5:c.286G>C	ENSP00000419274.1:p.Asp96His
ENST00000471181.6:c.286G>C	ENSP00000418960.2:p.Asp96His
ENST00000473961.5:c.9G>C
ENST00000476777.5:c.286G>C	ENSP00000417554.1:p.Asp96His
ENST00000477152.5:c.208G>C	ENSP00000419988.1:p.Asp70His
ENST00000478531.5:c.286G>C	ENSP00000420412.1:p.Asp96His
ENST00000484087.5:c.34G>C	ENSP00000419481.1:p.Asp12His
ENST00000487825.5:c.34G>C	ENSP00000418212.1:p.Asp12His
ENST00000489037.1:c.208G>C	ENSP00000420781.1:p.Asp70His
ENST00000491747.6:c.286G>C	ENSP00000420705.2:p.Asp96His
ENST00000492859.5:c.*222G>C	ENSP00000420253.1:n.*222G>C
ENST00000493795.5:c.145G>C	ENSP00000418775.1:p.Asp49His
ENST00000493919.5:c.145G>C	ENSP00000418819.1:p.Asp49His
ENST00000494123.5:c.286G>C	ENSP00000419103.1:p.Asp96His
ENST00000497488.1:c.-218-10023G>C	ENSP00000418986.1:n.-218-10023G>C
ENST00000586385.5:c.4+20299G>C	ENSP00000465818.1:n.4+20299G>C
ENST00000591534.5:c.-44+20388G>C	ENSP00000467329.1:n.-44+20388G>C
ENST00000591849.5:c.-99+20388G>C	ENSP00000465347.1:n.-99+20388G>C
ENST00000634433.1:c.286G>C	ENSP00000489431.1:p.Asp96His
NM_007294.3:c.286G>C , LRG_292t1:c.286G>C	NP_009225.1:p.Asp96His
NM_007297.3:c.145G>C	NP_009228.2:p.Asp49His
NM_007298.3:c.286G>C	NP_009229.2:p.Asp96His
NM_007299.3:c.286G>C	NP_009230.2:p.Asp96His
NM_007300.3:c.286G>C	NP_009231.2:p.Asp96His
NR_027676.1:n.425G>C
NM_007294.4:c.286G>C MANE Select	NP_009225.1:p.Asp96His
NM_007297.4:c.145G>C	NP_009228.2:p.Asp49His
NM_007299.4:c.286G>C	NP_009230.2:p.Asp96His
NM_007300.4:c.286G>C	NP_009231.2:p.Asp96His
NR_027676.2:n.466G>C