Canonical Allele Identifier: CA10593050

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 440473
• ClinVar RCV Id: RCV000509669 ; RCV000637618 ; RCV001800724 ; RCV004003562
• dbSNP Id: rs1273755215
• MyVariant Identifiers: chr17:g.41234441T>G (hg19) ; chr17:g.43082424T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082424T>G , CM000679.2:g.43082424T>G	GRCh38
NC_000017.10:g.41234441T>G , CM000679.1:g.41234441T>G	GRCh37
NC_000017.9:g.38487967T>G	NCBI36
NG_005905.2:g.135560A>C , LRG_292:g.135560A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4337A>C	ENSP00000417241.2:p.Glu1446Ala
ENST00000470026.6:c.4337A>C	ENSP00000419274.2:p.Glu1446Ala
ENST00000473961.6:c.4211A>C	ENSP00000420201.2:p.Glu1404Ala
ENST00000476777.6:c.4331A>C	ENSP00000417554.2:p.Glu1444Ala
ENST00000477152.6:c.4259A>C	ENSP00000419988.2:p.Glu1420Ala
ENST00000478531.6:c.1025A>C	ENSP00000420412.2:p.Glu342Ala
ENST00000489037.2:c.4259A>C	ENSP00000420781.2:p.Glu1420Ala
ENST00000493919.6:c.887A>C	ENSP00000418819.2:p.Glu296Ala
ENST00000494123.6:c.4337A>C	ENSP00000419103.2:p.Glu1446Ala
ENST00000497488.2:c.3449A>C	ENSP00000418986.2:p.Glu1150Ala
ENST00000618469.2:c.4337A>C	ENSP00000478114.2:p.Glu1446Ala
ENST00000634433.2:c.4214A>C	ENSP00000489431.2:p.Glu1405Ala
ENST00000644379.2:c.4337A>C	ENSP00000496570.2:p.Glu1446Ala
ENST00000644555.2:c.887A>C	ENSP00000494614.2:p.Glu296Ala
ENST00000652672.2:c.4196A>C	ENSP00000498906.2:p.Glu1399Ala
ENST00000484087.6:c.902A>C	ENSP00000419481.2:p.Glu301Ala
ENST00000700182.1:c.947A>C	ENSP00000514849.1:p.Glu316Ala
ENST00000357654.9:c.4337A>C MANE Select	ENSP00000350283.3:p.Glu1446Ala
ENST00000471181.7:c.4337A>C	ENSP00000418960.2:p.Glu1446Ala
ENST00000644379.1:c.658A>C
ENST00000352993.7:c.911A>C	ENSP00000312236.5:p.Glu304Ala
ENST00000357654.7:c.4337A>C	ENSP00000350283.3:p.Glu1446Ala
ENST00000461221.5:c.*4120A>C	ENSP00000418548.1:n.*4120A>C
ENST00000461574.1:c.631A>C
ENST00000468300.5:c.1028A>C	ENSP00000417148.1:p.Glu343Ala
ENST00000471181.6:c.4337A>C	ENSP00000418960.2:p.Glu1446Ala
ENST00000478531.5:c.1025A>C	ENSP00000420412.1:p.Glu342Ala
ENST00000484087.5:c.650A>C	ENSP00000419481.1:p.Glu217Ala
ENST00000487825.5:c.653A>C	ENSP00000418212.1:p.Glu218Ala
ENST00000491747.6:c.1028A>C	ENSP00000420705.2:p.Glu343Ala
ENST00000493795.5:c.4196A>C	ENSP00000418775.1:p.Glu1399Ala
ENST00000493919.5:c.887A>C	ENSP00000418819.1:p.Glu296Ala
ENST00000586385.5:c.5-18473A>C	ENSP00000465818.1:n.5-18473A>C
ENST00000591534.5:c.-43-7903A>C	ENSP00000467329.1:n.-43-7903A>C
ENST00000591849.5:c.-98-32234A>C	ENSP00000465347.1:n.-98-32234A>C
ENST00000621897.1:n.231A>C
NM_007294.3:c.4337A>C , LRG_292t1:c.4337A>C	NP_009225.1:p.Glu1446Ala
NM_007297.3:c.4196A>C	NP_009228.2:p.Glu1399Ala
NM_007298.3:c.1028A>C	NP_009229.2:p.Glu343Ala
NM_007299.3:c.1028A>C	NP_009230.2:p.Glu343Ala
NM_007300.3:c.4337A>C	NP_009231.2:p.Glu1446Ala
NR_027676.1:n.4473A>C
NM_007294.4:c.4337A>C MANE Select	NP_009225.1:p.Glu1446Ala
NM_007297.4:c.4196A>C	NP_009228.2:p.Glu1399Ala
NM_007299.4:c.1028A>C	NP_009230.2:p.Glu343Ala
NM_007300.4:c.4337A>C	NP_009231.2:p.Glu1446Ala
NR_027676.2:n.4514A>C