Canonical Allele Identifier: CA003471

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55522
• ClinVar RCV Id: RCV000048926 ; RCV000077614 ; RCV000496809 ; RCV000509679 ; RCV001770069
• dbSNP Id: rs80357428
• gnomAD v4: 17-43051077-G-A
• MyVariant Identifiers: chr17:g.41203094G>A (hg19) ; chr17:g.43051077G>A (hg38)
• PubMed: PMID:10923033 ; PMID:20516115

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051077G>A , CM000679.2:g.43051077G>A	GRCh38
NC_000017.10:g.41203094G>A , CM000679.1:g.41203094G>A	GRCh37
NC_000017.9:g.38456620G>A	NCBI36
NG_005905.2:g.166907C>T , LRG_292:g.166907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5315C>T	ENSP00000417241.2:p.Thr1772Ile
ENST00000470026.6:c.5318C>T	ENSP00000419274.2:p.Thr1773Ile
ENST00000473961.6:c.5192C>T	ENSP00000420201.2:p.Thr1731Ile
ENST00000476777.6:c.5312C>T	ENSP00000417554.2:p.Thr1771Ile
ENST00000477152.6:c.5240C>T	ENSP00000419988.2:p.Thr1747Ile
ENST00000478531.6:c.2006C>T	ENSP00000420412.2:p.Thr669Ile
ENST00000489037.2:c.5240C>T	ENSP00000420781.2:p.Thr1747Ile
ENST00000493919.6:c.1868C>T	ENSP00000418819.2:p.Thr623Ile
ENST00000494123.6:c.5318C>T	ENSP00000419103.2:p.Thr1773Ile
ENST00000497488.2:c.4430C>T	ENSP00000418986.2:p.Thr1477Ile
ENST00000618469.2:c.5318C>T	ENSP00000478114.2:p.Thr1773Ile
ENST00000634433.2:c.5195C>T	ENSP00000489431.2:p.Thr1732Ile
ENST00000644379.2:c.5384C>T	ENSP00000496570.2:p.Thr1795Ile
ENST00000644555.2:c.1868C>T	ENSP00000494614.2:p.Thr623Ile
ENST00000652672.2:c.5177C>T	ENSP00000498906.2:p.Thr1726Ile
ENST00000484087.6:c.1880C>T	ENSP00000419481.2:p.Thr627Ile
ENST00000357654.9:c.5318C>T MANE Select	ENSP00000350283.3:p.Thr1773Ile
ENST00000471181.7:c.5381C>T	ENSP00000418960.2:p.Thr1794Ile
ENST00000644379.1:c.1705C>T
ENST00000352993.7:c.1892C>T	ENSP00000312236.5:p.Thr631Ile
ENST00000357654.7:c.5318C>T	ENSP00000350283.3:p.Thr1773Ile
ENST00000461221.5:c.*5101C>T	ENSP00000418548.1:n.*5101C>T
ENST00000468300.5:c.2006C>T	ENSP00000417148.1:p.Thr669Ile
ENST00000471181.6:c.5381C>T	ENSP00000418960.2:p.Thr1794Ile
ENST00000491747.6:c.2006C>T	ENSP00000420705.2:p.Thr669Ile
ENST00000493795.5:c.5177C>T	ENSP00000418775.1:p.Thr1726Ile
ENST00000586385.5:c.248C>T	ENSP00000465818.1:p.Thr83Ile
ENST00000591534.5:c.791C>T	ENSP00000467329.1:p.Thr264Ile
ENST00000591849.5:c.-98-887C>T	ENSP00000465347.1:n.-98-887C>T
NM_007294.3:c.5318C>T , LRG_292t1:c.5318C>T	NP_009225.1:p.Thr1773Ile
NM_007297.3:c.5177C>T	NP_009228.2:p.Thr1726Ile
NM_007298.3:c.2006C>T	NP_009229.2:p.Thr669Ile
NM_007299.3:c.2006C>T	NP_009230.2:p.Thr669Ile
NM_007300.3:c.5381C>T	NP_009231.2:p.Thr1794Ile
NR_027676.1:n.5454C>T
NM_007294.4:c.5318C>T MANE Select	NP_009225.1:p.Thr1773Ile
NM_007297.4:c.5177C>T	NP_009228.2:p.Thr1726Ile
NM_007299.4:c.2006C>T	NP_009230.2:p.Thr669Ile
NM_007300.4:c.5381C>T	NP_009231.2:p.Thr1794Ile
NR_027676.2:n.5495C>T