Canonical Allele Identifier: CA500146833

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2841973
• ClinVar RCV Id: RCV003644518 ; RCV004371779
• dbSNP Id: rs2154068757
• MyVariant Identifiers: chr17:g.41228588C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076571C>T , CM000679.2:g.43076571C>T	GRCh38
NC_000017.10:g.41228588C>T , CM000679.1:g.41228588C>T	GRCh37
NC_000017.9:g.38482114C>T	NCBI36
NG_005905.2:g.141413G>A , LRG_292:g.141413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4398G>A	ENSP00000417241.2:p.Gln1466=
ENST00000470026.6:c.4401G>A	ENSP00000419274.2:p.Gln1467=
ENST00000473961.6:c.4275G>A	ENSP00000420201.2:p.Gln1425=
ENST00000476777.6:c.4395G>A	ENSP00000417554.2:p.Gln1465=
ENST00000477152.6:c.4323G>A	ENSP00000419988.2:p.Gln1441=
ENST00000478531.6:c.1089G>A	ENSP00000420412.2:p.Gln363=
ENST00000489037.2:c.4323G>A	ENSP00000420781.2:p.Gln1441=
ENST00000493919.6:c.951G>A	ENSP00000418819.2:p.Gln317=
ENST00000494123.6:c.4401G>A	ENSP00000419103.2:p.Gln1467=
ENST00000497488.2:c.3513G>A	ENSP00000418986.2:p.Gln1171=
ENST00000618469.2:c.4401G>A	ENSP00000478114.2:p.Gln1467=
ENST00000634433.2:c.4278G>A	ENSP00000489431.2:p.Gln1426=
ENST00000644379.2:c.4467G>A	ENSP00000496570.2:p.Gln1489=
ENST00000644555.2:c.951G>A	ENSP00000494614.2:p.Gln317=
ENST00000652672.2:c.4260G>A	ENSP00000498906.2:p.Gln1420=
ENST00000484087.6:c.963G>A	ENSP00000419481.2:p.Gln321=
ENST00000700182.1:c.1008G>A	ENSP00000514849.1:p.Gln336=
ENST00000357654.9:c.4401G>A MANE Select	ENSP00000350283.3:p.Gln1467=
ENST00000471181.7:c.4464G>A	ENSP00000418960.2:p.Gln1488=
ENST00000644379.1:c.788G>A
ENST00000352993.7:c.975G>A	ENSP00000312236.5:p.Gln325=
ENST00000357654.7:c.4401G>A	ENSP00000350283.3:p.Gln1467=
ENST00000461221.5:c.*4184G>A	ENSP00000418548.1:n.*4184G>A
ENST00000461574.1:c.692G>A
ENST00000468300.5:c.1089G>A	ENSP00000417148.1:p.Gln363=
ENST00000471181.6:c.4464G>A	ENSP00000418960.2:p.Gln1488=
ENST00000478531.5:c.1089G>A	ENSP00000420412.1:p.Gln363=
ENST00000484087.5:c.714G>A	ENSP00000419481.1:p.Gln238=
ENST00000487825.5:c.717G>A	ENSP00000418212.1:p.Gln239=
ENST00000491747.6:c.1089G>A	ENSP00000420705.2:p.Gln363=
ENST00000493795.5:c.4260G>A	ENSP00000418775.1:p.Gln1420=
ENST00000493919.5:c.951G>A	ENSP00000418819.1:p.Gln317=
ENST00000586385.5:c.5-12620G>A	ENSP00000465818.1:n.5-12620G>A
ENST00000591534.5:c.-43-2050G>A	ENSP00000467329.1:n.-43-2050G>A
ENST00000591849.5:c.-98-26381G>A	ENSP00000465347.1:n.-98-26381G>A
ENST00000621897.1:n.292G>A
NM_007294.3:c.4401G>A , LRG_292t1:c.4401G>A	NP_009225.1:p.Gln1467=
NM_007297.3:c.4260G>A	NP_009228.2:p.Gln1420=
NM_007298.3:c.1089G>A	NP_009229.2:p.Gln363=
NM_007299.3:c.1089G>A	NP_009230.2:p.Gln363=
NM_007300.3:c.4464G>A	NP_009231.2:p.Gln1488=
NR_027676.1:n.4537G>A
NM_007294.4:c.4401G>A MANE Select	NP_009225.1:p.Gln1467=
NM_007297.4:c.4260G>A	NP_009228.2:p.Gln1420=
NM_007299.4:c.1089G>A	NP_009230.2:p.Gln363=
NM_007300.4:c.4464G>A	NP_009231.2:p.Gln1488=
NR_027676.2:n.4578G>A