Canonical Allele Identifier: CA10592655

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431186
• ClinVar RCV Id: RCV000496683 ; RCV000562403 ; RCV000758829 ; RCV001290621 ; RCV004554790
• dbSNP Id: rs1135401828
• gnomAD v4: 17-43076531-C-T
• MyVariant Identifiers: chr17:g.41228548C>T (hg19) ; chr17:g.43076531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076531C>T , CM000679.2:g.43076531C>T	GRCh38
NC_000017.10:g.41228548C>T , CM000679.1:g.41228548C>T	GRCh37
NC_000017.9:g.38482074C>T	NCBI36
NG_005905.2:g.141453G>A , LRG_292:g.141453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4438G>A	ENSP00000417241.2:p.Ala1480Thr
ENST00000470026.6:c.4441G>A	ENSP00000419274.2:p.Ala1481Thr
ENST00000473961.6:c.4315G>A	ENSP00000420201.2:p.Ala1439Thr
ENST00000476777.6:c.4435G>A	ENSP00000417554.2:p.Ala1479Thr
ENST00000477152.6:c.4363G>A	ENSP00000419988.2:p.Ala1455Thr
ENST00000478531.6:c.1129G>A	ENSP00000420412.2:p.Ala377Thr
ENST00000489037.2:c.4363G>A	ENSP00000420781.2:p.Ala1455Thr
ENST00000493919.6:c.991G>A	ENSP00000418819.2:p.Ala331Thr
ENST00000494123.6:c.4441G>A	ENSP00000419103.2:p.Ala1481Thr
ENST00000497488.2:c.3553G>A	ENSP00000418986.2:p.Ala1185Thr
ENST00000618469.2:c.4441G>A	ENSP00000478114.2:p.Ala1481Thr
ENST00000634433.2:c.4318G>A	ENSP00000489431.2:p.Ala1440Thr
ENST00000644379.2:c.4507G>A	ENSP00000496570.2:p.Ala1503Thr
ENST00000644555.2:c.991G>A	ENSP00000494614.2:p.Ala331Thr
ENST00000652672.2:c.4300G>A	ENSP00000498906.2:p.Ala1434Thr
ENST00000484087.6:c.1003G>A	ENSP00000419481.2:p.Ala335Thr
ENST00000700182.1:c.1048G>A	ENSP00000514849.1:p.Ala350Thr
ENST00000357654.9:c.4441G>A MANE Select	ENSP00000350283.3:p.Ala1481Thr
ENST00000471181.7:c.4504G>A	ENSP00000418960.2:p.Ala1502Thr
ENST00000644379.1:c.828G>A
ENST00000352993.7:c.1015G>A	ENSP00000312236.5:p.Ala339Thr
ENST00000357654.7:c.4441G>A	ENSP00000350283.3:p.Ala1481Thr
ENST00000461221.5:c.*4224G>A	ENSP00000418548.1:n.*4224G>A
ENST00000468300.5:c.1129G>A	ENSP00000417148.1:p.Ala377Thr
ENST00000471181.6:c.4504G>A	ENSP00000418960.2:p.Ala1502Thr
ENST00000478531.5:c.1129G>A	ENSP00000420412.1:p.Ala377Thr
ENST00000484087.5:c.754G>A	ENSP00000419481.1:p.Ala252Thr
ENST00000487825.5:c.757G>A	ENSP00000418212.1:p.Ala253Thr
ENST00000491747.6:c.1129G>A	ENSP00000420705.2:p.Ala377Thr
ENST00000493795.5:c.4300G>A	ENSP00000418775.1:p.Ala1434Thr
ENST00000493919.5:c.991G>A	ENSP00000418819.1:p.Ala331Thr
ENST00000586385.5:c.5-12580G>A	ENSP00000465818.1:n.5-12580G>A
ENST00000591534.5:c.-43-2010G>A	ENSP00000467329.1:n.-43-2010G>A
ENST00000591849.5:c.-98-26341G>A	ENSP00000465347.1:n.-98-26341G>A
ENST00000621897.1:n.332G>A
NM_007294.3:c.4441G>A , LRG_292t1:c.4441G>A	NP_009225.1:p.Ala1481Thr
NM_007297.3:c.4300G>A	NP_009228.2:p.Ala1434Thr
NM_007298.3:c.1129G>A	NP_009229.2:p.Ala377Thr
NM_007299.3:c.1129G>A	NP_009230.2:p.Ala377Thr
NM_007300.3:c.4504G>A	NP_009231.2:p.Ala1502Thr
NR_027676.1:n.4577G>A
NM_007294.4:c.4441G>A MANE Select	NP_009225.1:p.Ala1481Thr
NM_007297.4:c.4300G>A	NP_009228.2:p.Ala1434Thr
NM_007299.4:c.1129G>A	NP_009230.2:p.Ala377Thr
NM_007300.4:c.4504G>A	NP_009231.2:p.Ala1502Thr
NR_027676.2:n.4618G>A