Canonical Allele Identifier: CA003618

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55588
• ClinVar RCV Id: RCV000112662 ; RCV001380441 ; RCV002345354 ; RCV001091356
• dbSNP Id: rs80357212
• MyVariant Identifiers: chr17:g.41199660C>T (hg19) ; chr17:g.43047643C>T (hg38)
• PubMed: PMID:12034536

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047643C>T , CM000679.2:g.43047643C>T	GRCh38
NC_000017.10:g.41199660C>T , CM000679.1:g.41199660C>T	GRCh37
NC_000017.9:g.38453186C>T	NCBI36
NG_005905.2:g.170341G>A , LRG_292:g.170341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5464G>A	ENSP00000417241.2:p.Ala1822Thr
ENST00000470026.6:c.5467G>A	ENSP00000419274.2:p.Ala1823Thr
ENST00000473961.6:c.5341G>A	ENSP00000420201.2:p.Ala1781Thr
ENST00000476777.6:c.5461G>A	ENSP00000417554.2:p.Ala1821Thr
ENST00000477152.6:c.5389G>A	ENSP00000419988.2:p.Ala1797Thr
ENST00000478531.6:c.2155G>A	ENSP00000420412.2:p.Ala719Thr
ENST00000489037.2:c.5389G>A	ENSP00000420781.2:p.Ala1797Thr
ENST00000493919.6:c.2017G>A	ENSP00000418819.2:p.Ala673Thr
ENST00000494123.6:c.5467G>A	ENSP00000419103.2:p.Ala1823Thr
ENST00000497488.2:c.4579G>A	ENSP00000418986.2:p.Ala1527Thr
ENST00000618469.2:c.5467G>A	ENSP00000478114.2:p.Ala1823Thr
ENST00000634433.2:c.5344G>A	ENSP00000489431.2:p.Ala1782Thr
ENST00000644379.2:c.5533G>A	ENSP00000496570.2:p.Ala1845Thr
ENST00000644555.2:c.2017G>A	ENSP00000494614.2:p.Ala673Thr
ENST00000652672.2:c.5326G>A	ENSP00000498906.2:p.Ala1776Thr
ENST00000484087.6:c.2029G>A	ENSP00000419481.2:p.Ala677Thr
ENST00000700081.1:n.1350G>A
ENST00000700082.1:n.831G>A
ENST00000357654.9:c.5467G>A MANE Select	ENSP00000350283.3:p.Ala1823Thr
ENST00000471181.7:c.5530G>A	ENSP00000418960.2:p.Ala1844Thr
ENST00000644379.1:c.1854G>A
ENST00000352993.7:c.2041G>A	ENSP00000312236.5:p.Ala681Thr
ENST00000357654.7:c.5467G>A	ENSP00000350283.3:p.Ala1823Thr
ENST00000461221.5:c.*5250G>A	ENSP00000418548.1:n.*5250G>A
ENST00000468300.5:c.2081G>A	ENSP00000417148.1:p.Cys694Tyr
ENST00000471181.6:c.5530G>A	ENSP00000418960.2:p.Ala1844Thr
ENST00000491747.6:c.2155G>A	ENSP00000420705.2:p.Ala719Thr
ENST00000493795.5:c.5326G>A	ENSP00000418775.1:p.Ala1776Thr
ENST00000586385.5:c.397G>A	ENSP00000465818.1:p.Ala133Thr
ENST00000591534.5:c.940G>A	ENSP00000467329.1:p.Ala314Thr
ENST00000591849.5:c.166G>A	ENSP00000465347.1:p.Ala56Thr
NM_007294.3:c.5467G>A , LRG_292t1:c.5467G>A	NP_009225.1:p.Ala1823Thr
NM_007297.3:c.5326G>A	NP_009228.2:p.Ala1776Thr
NM_007298.3:c.2155G>A	NP_009229.2:p.Ala719Thr
NM_007299.3:c.2081G>A	NP_009230.2:p.Cys694Tyr
NM_007300.3:c.5530G>A	NP_009231.2:p.Ala1844Thr
NR_027676.1:n.5603G>A
NM_007294.4:c.5467G>A MANE Select	NP_009225.1:p.Ala1823Thr
NM_007297.4:c.5326G>A	NP_009228.2:p.Ala1776Thr
NM_007299.4:c.2081G>A	NP_009230.2:p.Cys694Tyr
NM_007300.4:c.5530G>A	NP_009231.2:p.Ala1844Thr
NR_027676.2:n.5644G>A