Canonical Allele Identifier: CA500231662

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865685
• ClinVar RCV Id: RCV001073152
• dbSNP Id: rs2052378025
• COSMIC: COSM372860
• MyVariant Identifiers: chr17:g.41223011T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070994T>G , CM000679.2:g.43070994T>G	GRCh38
NC_000017.10:g.41223011T>G , CM000679.1:g.41223011T>G	GRCh37
NC_000017.9:g.38476537T>G	NCBI36
NG_005905.2:g.146990A>C , LRG_292:g.146990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4917A>C	ENSP00000417241.2:p.Thr1639=
ENST00000470026.6:c.4920A>C	ENSP00000419274.2:p.Thr1640=
ENST00000473961.6:c.4794A>C	ENSP00000420201.2:p.Thr1598=
ENST00000476777.6:c.4914A>C	ENSP00000417554.2:p.Thr1638=
ENST00000477152.6:c.4842A>C	ENSP00000419988.2:p.Thr1614=
ENST00000478531.6:c.1608A>C	ENSP00000420412.2:p.Thr536=
ENST00000489037.2:c.4842A>C	ENSP00000420781.2:p.Thr1614=
ENST00000493919.6:c.1470A>C	ENSP00000418819.2:p.Thr490=
ENST00000494123.6:c.4920A>C	ENSP00000419103.2:p.Thr1640=
ENST00000497488.2:c.4032A>C	ENSP00000418986.2:p.Thr1344=
ENST00000618469.2:c.4920A>C	ENSP00000478114.2:p.Thr1640=
ENST00000634433.2:c.4797A>C	ENSP00000489431.2:p.Thr1599=
ENST00000644379.2:c.4986A>C	ENSP00000496570.2:p.Thr1662=
ENST00000644555.2:c.1470A>C	ENSP00000494614.2:p.Thr490=
ENST00000652672.2:c.4779A>C	ENSP00000498906.2:p.Thr1593=
ENST00000484087.6:c.1482A>C	ENSP00000419481.2:p.Thr494=
ENST00000700182.1:c.1527A>C	ENSP00000514849.1:p.Thr509=
ENST00000357654.9:c.4920A>C MANE Select	ENSP00000350283.3:p.Thr1640=
ENST00000471181.7:c.4983A>C	ENSP00000418960.2:p.Thr1661=
ENST00000644379.1:c.1307A>C
ENST00000352993.7:c.1494A>C	ENSP00000312236.5:p.Thr498=
ENST00000357654.7:c.4920A>C	ENSP00000350283.3:p.Thr1640=
ENST00000461221.5:c.*4703A>C	ENSP00000418548.1:n.*4703A>C
ENST00000468300.5:c.1608A>C	ENSP00000417148.1:p.Thr536=
ENST00000471181.6:c.4983A>C	ENSP00000418960.2:p.Thr1661=
ENST00000472490.1:n.73A>C
ENST00000478531.5:c.1608A>C	ENSP00000420412.1:p.Thr536=
ENST00000484087.5:c.1233A>C	ENSP00000419481.1:p.Thr411=
ENST00000491747.6:c.1608A>C	ENSP00000420705.2:p.Thr536=
ENST00000493795.5:c.4779A>C	ENSP00000418775.1:p.Thr1593=
ENST00000493919.5:c.1470A>C	ENSP00000418819.1:p.Thr490=
ENST00000586385.5:c.5-7043A>C	ENSP00000465818.1:n.5-7043A>C
ENST00000591534.5:c.393A>C	ENSP00000467329.1:p.Thr131=
ENST00000591849.5:c.-98-20804A>C	ENSP00000465347.1:n.-98-20804A>C
NM_007294.3:c.4920A>C , LRG_292t1:c.4920A>C	NP_009225.1:p.Thr1640=
NM_007297.3:c.4779A>C	NP_009228.2:p.Thr1593=
NM_007298.3:c.1608A>C	NP_009229.2:p.Thr536=
NM_007299.3:c.1608A>C	NP_009230.2:p.Thr536=
NM_007300.3:c.4983A>C	NP_009231.2:p.Thr1661=
NR_027676.1:n.5056A>C
NM_007294.4:c.4920A>C MANE Select	NP_009225.1:p.Thr1640=
NM_007297.4:c.4779A>C	NP_009228.2:p.Thr1593=
NM_007299.4:c.1608A>C	NP_009230.2:p.Thr536=
NM_007300.4:c.4983A>C	NP_009231.2:p.Thr1661=
NR_027676.2:n.5097A>C