Canonical Allele Identifier: CA053663

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067677C>T , CM000679.2:g.43067677C>T	GRCh38
NC_000017.10:g.41219694C>T , CM000679.1:g.41219694C>T	GRCh37
NC_000017.9:g.38473220C>T	NCBI36
NG_005905.2:g.150307G>A , LRG_292:g.150307G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5002G>A	ENSP00000417241.2:p.Ala1668Thr
ENST00000470026.6:c.5005G>A	ENSP00000419274.2:p.Ala1669Thr
ENST00000473961.6:c.4879G>A	ENSP00000420201.2:p.Ala1627Thr
ENST00000476777.6:c.4999G>A	ENSP00000417554.2:p.Ala1667Thr
ENST00000477152.6:c.4927G>A	ENSP00000419988.2:p.Ala1643Thr
ENST00000478531.6:c.1693G>A	ENSP00000420412.2:p.Ala565Thr
ENST00000489037.2:c.4927G>A	ENSP00000420781.2:p.Ala1643Thr
ENST00000493919.6:c.1555G>A	ENSP00000418819.2:p.Ala519Thr
ENST00000494123.6:c.5005G>A	ENSP00000419103.2:p.Ala1669Thr
ENST00000497488.2:c.4117G>A	ENSP00000418986.2:p.Ala1373Thr
ENST00000618469.2:c.5005G>A	ENSP00000478114.2:p.Ala1669Thr
ENST00000634433.2:c.4882G>A	ENSP00000489431.2:p.Ala1628Thr
ENST00000644379.2:c.5071G>A	ENSP00000496570.2:p.Ala1691Thr
ENST00000644555.2:c.1555G>A	ENSP00000494614.2:p.Ala519Thr
ENST00000652672.2:c.4864G>A	ENSP00000498906.2:p.Ala1622Thr
ENST00000484087.6:c.1567G>A	ENSP00000419481.2:p.Ala523Thr
ENST00000357654.9:c.5005G>A MANE Select	ENSP00000350283.3:p.Ala1669Thr
ENST00000471181.7:c.5068G>A	ENSP00000418960.2:p.Ala1690Thr
ENST00000644379.1:c.1392G>A
ENST00000352993.7:c.1579G>A	ENSP00000312236.5:p.Ala527Thr
ENST00000357654.7:c.5005G>A	ENSP00000350283.3:p.Ala1669Thr
ENST00000461221.5:c.*4788G>A	ENSP00000418548.1:n.*4788G>A
ENST00000468300.5:c.1693G>A	ENSP00000417148.1:p.Ala565Thr
ENST00000471181.6:c.5068G>A	ENSP00000418960.2:p.Ala1690Thr
ENST00000472490.1:n.158G>A
ENST00000478531.5:c.1693G>A	ENSP00000420412.1:p.Ala565Thr
ENST00000484087.5:c.1318G>A	ENSP00000419481.1:p.Ala440Thr
ENST00000491747.6:c.1693G>A	ENSP00000420705.2:p.Ala565Thr
ENST00000493795.5:c.4864G>A	ENSP00000418775.1:p.Ala1622Thr
ENST00000493919.5:c.1555G>A	ENSP00000418819.1:p.Ala519Thr
ENST00000586385.5:c.5-3726G>A	ENSP00000465818.1:n.5-3726G>A
ENST00000591534.5:c.478G>A	ENSP00000467329.1:p.Ala160Thr
ENST00000591849.5:c.-98-17487G>A	ENSP00000465347.1:n.-98-17487G>A
NM_007294.3:c.5005G>A , LRG_292t1:c.5005G>A	NP_009225.1:p.Ala1669Thr
NM_007297.3:c.4864G>A	NP_009228.2:p.Ala1622Thr
NM_007298.3:c.1693G>A	NP_009229.2:p.Ala565Thr
NM_007299.3:c.1693G>A	NP_009230.2:p.Ala565Thr
NM_007300.3:c.5068G>A	NP_009231.2:p.Ala1690Thr
NR_027676.1:n.5141G>A
NM_007294.4:c.5005G>A MANE Select	NP_009225.1:p.Ala1669Thr
NM_007297.4:c.4864G>A	NP_009228.2:p.Ala1622Thr
NM_007299.4:c.1693G>A	NP_009230.2:p.Ala565Thr
NM_007300.4:c.5068G>A	NP_009231.2:p.Ala1690Thr
NR_027676.2:n.5182G>A