Canonical Allele Identifier: CA003238

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55399
• ClinVar RCV Id: RCV000519293 ; RCV001078046 ; RCV001367052 ; RCV002345345
• dbSNP Id: rs397509227
• MyVariant Identifiers: chr17:g.41215945T>C (hg19) ; chr17:g.43063928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063928T>C , CM000679.2:g.43063928T>C	GRCh38
NC_000017.10:g.41215945T>C , CM000679.1:g.41215945T>C	GRCh37
NC_000017.9:g.38469471T>C	NCBI36
NG_005905.2:g.154056A>G , LRG_292:g.154056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5095A>G	ENSP00000417241.2:p.Thr1699Ala
ENST00000470026.6:c.5098A>G	ENSP00000419274.2:p.Thr1700Ala
ENST00000473961.6:c.4972A>G	ENSP00000420201.2:p.Thr1658Ala
ENST00000476777.6:c.5092A>G	ENSP00000417554.2:p.Thr1698Ala
ENST00000477152.6:c.5020A>G	ENSP00000419988.2:p.Thr1674Ala
ENST00000478531.6:c.1786A>G	ENSP00000420412.2:p.Thr596Ala
ENST00000489037.2:c.5020A>G	ENSP00000420781.2:p.Thr1674Ala
ENST00000493919.6:c.1648A>G	ENSP00000418819.2:p.Thr550Ala
ENST00000494123.6:c.5098A>G	ENSP00000419103.2:p.Thr1700Ala
ENST00000497488.2:c.4210A>G	ENSP00000418986.2:p.Thr1404Ala
ENST00000618469.2:c.5098A>G	ENSP00000478114.2:p.Thr1700Ala
ENST00000634433.2:c.4975A>G	ENSP00000489431.2:p.Thr1659Ala
ENST00000644379.2:c.5164A>G	ENSP00000496570.2:p.Thr1722Ala
ENST00000644555.2:c.1648A>G	ENSP00000494614.2:p.Thr550Ala
ENST00000652672.2:c.4957A>G	ENSP00000498906.2:p.Thr1653Ala
ENST00000484087.6:c.1660A>G	ENSP00000419481.2:p.Thr554Ala
ENST00000357654.9:c.5098A>G MANE Select	ENSP00000350283.3:p.Thr1700Ala
ENST00000471181.7:c.5161A>G	ENSP00000418960.2:p.Thr1721Ala
ENST00000644379.1:c.1485A>G
ENST00000352993.7:c.1672A>G	ENSP00000312236.5:p.Thr558Ala
ENST00000357654.7:c.5098A>G	ENSP00000350283.3:p.Thr1700Ala
ENST00000461221.5:c.*4881A>G	ENSP00000418548.1:n.*4881A>G
ENST00000468300.5:c.1786A>G	ENSP00000417148.1:p.Thr596Ala
ENST00000471181.6:c.5161A>G	ENSP00000418960.2:p.Thr1721Ala
ENST00000478531.5:c.1786A>G	ENSP00000420412.1:p.Thr596Ala
ENST00000484087.5:c.1411A>G	ENSP00000419481.1:p.Thr471Ala
ENST00000491747.6:c.1786A>G	ENSP00000420705.2:p.Thr596Ala
ENST00000493795.5:c.4957A>G	ENSP00000418775.1:p.Thr1653Ala
ENST00000493919.5:c.1648A>G	ENSP00000418819.1:p.Thr550Ala
ENST00000586385.5:c.28A>G	ENSP00000465818.1:p.Thr10Ala
ENST00000591534.5:c.571A>G	ENSP00000467329.1:p.Thr191Ala
ENST00000591849.5:c.-98-13738A>G	ENSP00000465347.1:n.-98-13738A>G
NM_007294.3:c.5098A>G , LRG_292t1:c.5098A>G	NP_009225.1:p.Thr1700Ala
NM_007297.3:c.4957A>G	NP_009228.2:p.Thr1653Ala
NM_007298.3:c.1786A>G	NP_009229.2:p.Thr596Ala
NM_007299.3:c.1786A>G	NP_009230.2:p.Thr596Ala
NM_007300.3:c.5161A>G	NP_009231.2:p.Thr1721Ala
NR_027676.1:n.5234A>G
NM_007294.4:c.5098A>G MANE Select	NP_009225.1:p.Thr1700Ala
NM_007297.4:c.4957A>G	NP_009228.2:p.Thr1653Ala
NM_007299.4:c.1786A>G	NP_009230.2:p.Thr596Ala
NM_007300.4:c.5161A>G	NP_009231.2:p.Thr1721Ala
NR_027676.2:n.5275A>G