Canonical Allele Identifier: CA10593075

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 951122
• ClinVar RCV Id: RCV001222969
• dbSNP Id: rs1057523168
• MyVariant Identifiers: chr17:g.41234455G>T (hg19) ; chr17:g.43082438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082438G>T , CM000679.2:g.43082438G>T	GRCh38
NC_000017.10:g.41234455G>T , CM000679.1:g.41234455G>T	GRCh37
NC_000017.9:g.38487981G>T	NCBI36
NG_005905.2:g.135546C>A , LRG_292:g.135546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4323C>A	ENSP00000417241.2:p.Asp1441Glu
ENST00000470026.6:c.4323C>A	ENSP00000419274.2:p.Asp1441Glu
ENST00000473961.6:c.4197C>A	ENSP00000420201.2:p.Asp1399Glu
ENST00000476777.6:c.4317C>A	ENSP00000417554.2:p.Asp1439Glu
ENST00000477152.6:c.4245C>A	ENSP00000419988.2:p.Asp1415Glu
ENST00000478531.6:c.1011C>A	ENSP00000420412.2:p.Asp337Glu
ENST00000489037.2:c.4245C>A	ENSP00000420781.2:p.Asp1415Glu
ENST00000493919.6:c.873C>A	ENSP00000418819.2:p.Asp291Glu
ENST00000494123.6:c.4323C>A	ENSP00000419103.2:p.Asp1441Glu
ENST00000497488.2:c.3435C>A	ENSP00000418986.2:p.Asp1145Glu
ENST00000618469.2:c.4323C>A	ENSP00000478114.2:p.Asp1441Glu
ENST00000634433.2:c.4200C>A	ENSP00000489431.2:p.Asp1400Glu
ENST00000644379.2:c.4323C>A	ENSP00000496570.2:p.Asp1441Glu
ENST00000644555.2:c.873C>A	ENSP00000494614.2:p.Asp291Glu
ENST00000652672.2:c.4182C>A	ENSP00000498906.2:p.Asp1394Glu
ENST00000484087.6:c.888C>A	ENSP00000419481.2:p.Asp296Glu
ENST00000700182.1:c.933C>A	ENSP00000514849.1:p.Asp311Glu
ENST00000357654.9:c.4323C>A MANE Select	ENSP00000350283.3:p.Asp1441Glu
ENST00000471181.7:c.4323C>A	ENSP00000418960.2:p.Asp1441Glu
ENST00000644379.1:c.644C>A
ENST00000352993.7:c.897C>A	ENSP00000312236.5:p.Asp299Glu
ENST00000357654.7:c.4323C>A	ENSP00000350283.3:p.Asp1441Glu
ENST00000461221.5:c.*4106C>A	ENSP00000418548.1:n.*4106C>A
ENST00000461574.1:c.617C>A
ENST00000468300.5:c.1014C>A	ENSP00000417148.1:p.Asp338Glu
ENST00000471181.6:c.4323C>A	ENSP00000418960.2:p.Asp1441Glu
ENST00000478531.5:c.1011C>A	ENSP00000420412.1:p.Asp337Glu
ENST00000484087.5:c.636C>A	ENSP00000419481.1:p.Asp212Glu
ENST00000487825.5:c.639C>A	ENSP00000418212.1:p.Asp213Glu
ENST00000491747.6:c.1014C>A	ENSP00000420705.2:p.Asp338Glu
ENST00000493795.5:c.4182C>A	ENSP00000418775.1:p.Asp1394Glu
ENST00000493919.5:c.873C>A	ENSP00000418819.1:p.Asp291Glu
ENST00000586385.5:c.5-18487C>A	ENSP00000465818.1:n.5-18487C>A
ENST00000591534.5:c.-43-7917C>A	ENSP00000467329.1:n.-43-7917C>A
ENST00000591849.5:c.-98-32248C>A	ENSP00000465347.1:n.-98-32248C>A
ENST00000621897.1:n.217C>A
NM_007294.3:c.4323C>A , LRG_292t1:c.4323C>A	NP_009225.1:p.Asp1441Glu
NM_007297.3:c.4182C>A	NP_009228.2:p.Asp1394Glu
NM_007298.3:c.1014C>A	NP_009229.2:p.Asp338Glu
NM_007299.3:c.1014C>A	NP_009230.2:p.Asp338Glu
NM_007300.3:c.4323C>A	NP_009231.2:p.Asp1441Glu
NR_027676.1:n.4459C>A
NM_007294.4:c.4323C>A MANE Select	NP_009225.1:p.Asp1441Glu
NM_007297.4:c.4182C>A	NP_009228.2:p.Asp1394Glu
NM_007299.4:c.1014C>A	NP_009230.2:p.Asp338Glu
NM_007300.4:c.4323C>A	NP_009231.2:p.Asp1441Glu
NR_027676.2:n.4500C>A