Canonical Allele Identifier: CA500233514

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1759682
• ClinVar RCV Id: RCV002394182
• MyVariant Identifiers: chr17:g.41246789T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094772T>G , CM000679.2:g.43094772T>G	GRCh38
NC_000017.10:g.41246789T>G , CM000679.1:g.41246789T>G	GRCh37
NC_000017.9:g.38500315T>G	NCBI36
NG_005905.2:g.123212A>C , LRG_292:g.123212A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.823A>C
ENST00000461574.2:c.759A>C	ENSP00000417241.2:p.Ala253=
ENST00000470026.6:c.759A>C	ENSP00000419274.2:p.Ala253=
ENST00000473961.6:c.633A>C	ENSP00000420201.2:p.Ala211=
ENST00000476777.6:c.756A>C	ENSP00000417554.2:p.Ala252=
ENST00000477152.6:c.681A>C	ENSP00000419988.2:p.Ala227=
ENST00000478531.6:c.756A>C	ENSP00000420412.2:p.Ala252=
ENST00000489037.2:c.681A>C	ENSP00000420781.2:p.Ala227=
ENST00000493919.6:c.618A>C	ENSP00000418819.2:p.Ala206=
ENST00000494123.6:c.759A>C	ENSP00000419103.2:p.Ala253=
ENST00000497488.2:c.-130A>C	ENSP00000418986.2:n.-130A>C
ENST00000618469.2:c.759A>C	ENSP00000478114.2:p.Ala253=
ENST00000634433.2:c.636A>C	ENSP00000489431.2:p.Ala212=
ENST00000644379.2:c.759A>C	ENSP00000496570.2:p.Ala253=
ENST00000644555.2:c.618A>C	ENSP00000494614.2:p.Ala206=
ENST00000652672.2:c.618A>C	ENSP00000498906.2:p.Ala206=
ENST00000484087.6:c.636A>C	ENSP00000419481.2:p.Ala212=
ENST00000700182.1:c.678A>C	ENSP00000514849.1:p.Ala226=
ENST00000700183.1:c.*767A>C	ENSP00000514850.1:n.*767A>C
ENST00000357654.9:c.759A>C MANE Select	ENSP00000350283.3:p.Ala253=
ENST00000471181.7:c.759A>C	ENSP00000418960.2:p.Ala253=
ENST00000642945.1:c.*633A>C	ENSP00000495897.1:n.*633A>C
ENST00000652672.1:c.618A>C	ENSP00000498906.1:p.Ala206=
ENST00000352993.7:c.670+1074A>C	ENSP00000312236.5:n.670+1074A>C
ENST00000354071.7:c.759A>C	ENSP00000326002.7:p.Ala253=
ENST00000357654.7:c.759A>C	ENSP00000350283.3:p.Ala253=
ENST00000412061.3:c.110A>C
ENST00000461221.5:c.*542A>C	ENSP00000418548.1:n.*542A>C
ENST00000468300.5:c.759A>C	ENSP00000417148.1:p.Ala253=
ENST00000470026.5:c.759A>C	ENSP00000419274.1:p.Ala253=
ENST00000471181.6:c.759A>C	ENSP00000418960.2:p.Ala253=
ENST00000473961.5:c.356A>C
ENST00000477152.5:c.681A>C	ENSP00000419988.1:p.Ala227=
ENST00000478531.5:c.756A>C	ENSP00000420412.1:p.Ala252=
ENST00000484087.5:c.381A>C	ENSP00000419481.1:p.Ala127=
ENST00000487825.5:c.384A>C	ENSP00000418212.1:p.Ala128=
ENST00000491747.6:c.759A>C	ENSP00000420705.2:p.Ala253=
ENST00000492859.5:c.*695A>C	ENSP00000420253.1:n.*695A>C
ENST00000493795.5:c.618A>C	ENSP00000418775.1:p.Ala206=
ENST00000493919.5:c.618A>C	ENSP00000418819.1:p.Ala206=
ENST00000494123.5:c.759A>C	ENSP00000419103.1:p.Ala253=
ENST00000497488.1:c.-130A>C	ENSP00000418986.1:n.-130A>C
ENST00000586385.5:c.4+30410A>C	ENSP00000465818.1:n.4+30410A>C
ENST00000591534.5:c.-43-20251A>C	ENSP00000467329.1:n.-43-20251A>C
ENST00000591849.5:c.-99+30499A>C	ENSP00000465347.1:n.-99+30499A>C
ENST00000634433.1:c.636A>C	ENSP00000489431.1:p.Ala212=
NM_007294.3:c.759A>C , LRG_292t1:c.759A>C	NP_009225.1:p.Ala253=
NM_007297.3:c.618A>C	NP_009228.2:p.Ala206=
NM_007298.3:c.759A>C	NP_009229.2:p.Ala253=
NM_007299.3:c.759A>C	NP_009230.2:p.Ala253=
NM_007300.3:c.759A>C	NP_009231.2:p.Ala253=
NR_027676.1:n.895A>C
NM_007294.4:c.759A>C MANE Select	NP_009225.1:p.Ala253=
NM_007297.4:c.618A>C	NP_009228.2:p.Ala206=
NM_007299.4:c.759A>C	NP_009230.2:p.Ala253=
NM_007300.4:c.759A>C	NP_009231.2:p.Ala253=
NR_027676.2:n.936A>C