Canonical Allele Identifier: CA10591333

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531317
• ClinVar RCV Id: RCV000637552 ; RCV000774949 ; RCV001078045
• dbSNP Id: rs397509227
• MyVariant Identifiers: chr17:g.41215945T>G (hg19) ; chr17:g.43063928T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5095A>C	ENSP00000417241.2:p.Thr1699Pro
ENST00000470026.6:c.5098A>C	ENSP00000419274.2:p.Thr1700Pro
ENST00000473961.6:c.4972A>C	ENSP00000420201.2:p.Thr1658Pro
ENST00000476777.6:c.5092A>C	ENSP00000417554.2:p.Thr1698Pro
ENST00000477152.6:c.5020A>C	ENSP00000419988.2:p.Thr1674Pro
ENST00000478531.6:c.1786A>C	ENSP00000420412.2:p.Thr596Pro
ENST00000489037.2:c.5020A>C	ENSP00000420781.2:p.Thr1674Pro
ENST00000493919.6:c.1648A>C	ENSP00000418819.2:p.Thr550Pro
ENST00000494123.6:c.5098A>C	ENSP00000419103.2:p.Thr1700Pro
ENST00000497488.2:c.4210A>C	ENSP00000418986.2:p.Thr1404Pro
ENST00000618469.2:c.5098A>C	ENSP00000478114.2:p.Thr1700Pro
ENST00000634433.2:c.4975A>C	ENSP00000489431.2:p.Thr1659Pro
ENST00000644379.2:c.5164A>C	ENSP00000496570.2:p.Thr1722Pro
ENST00000644555.2:c.1648A>C	ENSP00000494614.2:p.Thr550Pro
ENST00000652672.2:c.4957A>C	ENSP00000498906.2:p.Thr1653Pro
ENST00000484087.6:c.1660A>C	ENSP00000419481.2:p.Thr554Pro
ENST00000357654.9:c.5098A>C MANE Select	ENSP00000350283.3:p.Thr1700Pro
ENST00000471181.7:c.5161A>C	ENSP00000418960.2:p.Thr1721Pro
ENST00000644379.1:c.1485A>C
ENST00000352993.7:c.1672A>C	ENSP00000312236.5:p.Thr558Pro
ENST00000357654.7:c.5098A>C	ENSP00000350283.3:p.Thr1700Pro
ENST00000461221.5:c.*4881A>C	ENSP00000418548.1:n.*4881A>C
ENST00000468300.5:c.1786A>C	ENSP00000417148.1:p.Thr596Pro
ENST00000471181.6:c.5161A>C	ENSP00000418960.2:p.Thr1721Pro
ENST00000478531.5:c.1786A>C	ENSP00000420412.1:p.Thr596Pro
ENST00000484087.5:c.1411A>C	ENSP00000419481.1:p.Thr471Pro
ENST00000491747.6:c.1786A>C	ENSP00000420705.2:p.Thr596Pro
ENST00000493795.5:c.4957A>C	ENSP00000418775.1:p.Thr1653Pro
ENST00000493919.5:c.1648A>C	ENSP00000418819.1:p.Thr550Pro
ENST00000586385.5:c.28A>C	ENSP00000465818.1:p.Thr10Pro
ENST00000591534.5:c.571A>C	ENSP00000467329.1:p.Thr191Pro
ENST00000591849.5:c.-98-13738A>C	ENSP00000465347.1:n.-98-13738A>C
NM_007294.3:c.5098A>C , LRG_292t1:c.5098A>C	NP_009225.1:p.Thr1700Pro
NM_007297.3:c.4957A>C	NP_009228.2:p.Thr1653Pro
NM_007298.3:c.1786A>C	NP_009229.2:p.Thr596Pro
NM_007299.3:c.1786A>C	NP_009230.2:p.Thr596Pro
NM_007300.3:c.5161A>C	NP_009231.2:p.Thr1721Pro
NR_027676.1:n.5234A>C
NM_007294.4:c.5098A>C MANE Select	NP_009225.1:p.Thr1700Pro
NM_007297.4:c.4957A>C	NP_009228.2:p.Thr1653Pro
NM_007299.4:c.1786A>C	NP_009230.2:p.Thr596Pro
NM_007300.4:c.5161A>C	NP_009231.2:p.Thr1721Pro
NR_027676.2:n.5275A>C