Canonical Allele Identifier: CA003023

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55288
• ClinVar RCV Id: RCV000112399 ; RCV001346129 ; RCV002336185
• dbSNP Id: rs80357187
• gnomAD v4: 17-43071125-T-C
• MyVariant Identifiers: chr17:g.41223142T>C (hg19) ; chr17:g.43071125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071125T>C , CM000679.2:g.43071125T>C	GRCh38
NC_000017.10:g.41223142T>C , CM000679.1:g.41223142T>C	GRCh37
NC_000017.9:g.38476668T>C	NCBI36
NG_005905.2:g.146859A>G , LRG_292:g.146859A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4786A>G	ENSP00000417241.2:p.Thr1596Ala
ENST00000470026.6:c.4789A>G	ENSP00000419274.2:p.Thr1597Ala
ENST00000473961.6:c.4663A>G	ENSP00000420201.2:p.Thr1555Ala
ENST00000476777.6:c.4783A>G	ENSP00000417554.2:p.Thr1595Ala
ENST00000477152.6:c.4711A>G	ENSP00000419988.2:p.Thr1571Ala
ENST00000478531.6:c.1477A>G	ENSP00000420412.2:p.Thr493Ala
ENST00000489037.2:c.4711A>G	ENSP00000420781.2:p.Thr1571Ala
ENST00000493919.6:c.1339A>G	ENSP00000418819.2:p.Thr447Ala
ENST00000494123.6:c.4789A>G	ENSP00000419103.2:p.Thr1597Ala
ENST00000497488.2:c.3901A>G	ENSP00000418986.2:p.Thr1301Ala
ENST00000618469.2:c.4789A>G	ENSP00000478114.2:p.Thr1597Ala
ENST00000634433.2:c.4666A>G	ENSP00000489431.2:p.Thr1556Ala
ENST00000644379.2:c.4855A>G	ENSP00000496570.2:p.Thr1619Ala
ENST00000644555.2:c.1339A>G	ENSP00000494614.2:p.Thr447Ala
ENST00000652672.2:c.4648A>G	ENSP00000498906.2:p.Thr1550Ala
ENST00000484087.6:c.1351A>G	ENSP00000419481.2:p.Thr451Ala
ENST00000700182.1:c.1396A>G	ENSP00000514849.1:p.Thr466Ala
ENST00000357654.9:c.4789A>G MANE Select	ENSP00000350283.3:p.Thr1597Ala
ENST00000471181.7:c.4852A>G	ENSP00000418960.2:p.Thr1618Ala
ENST00000644379.1:c.1176A>G
ENST00000352993.7:c.1363A>G	ENSP00000312236.5:p.Thr455Ala
ENST00000357654.7:c.4789A>G	ENSP00000350283.3:p.Thr1597Ala
ENST00000461221.5:c.*4572A>G	ENSP00000418548.1:n.*4572A>G
ENST00000468300.5:c.1477A>G	ENSP00000417148.1:p.Thr493Ala
ENST00000471181.6:c.4852A>G	ENSP00000418960.2:p.Thr1618Ala
ENST00000478531.5:c.1477A>G	ENSP00000420412.1:p.Thr493Ala
ENST00000484087.5:c.1102A>G	ENSP00000419481.1:p.Thr368Ala
ENST00000491747.6:c.1477A>G	ENSP00000420705.2:p.Thr493Ala
ENST00000493795.5:c.4648A>G	ENSP00000418775.1:p.Thr1550Ala
ENST00000493919.5:c.1339A>G	ENSP00000418819.1:p.Thr447Ala
ENST00000586385.5:c.5-7174A>G	ENSP00000465818.1:n.5-7174A>G
ENST00000591534.5:c.262A>G	ENSP00000467329.1:p.Thr88Ala
ENST00000591849.5:c.-98-20935A>G	ENSP00000465347.1:n.-98-20935A>G
NM_007294.3:c.4789A>G , LRG_292t1:c.4789A>G	NP_009225.1:p.Thr1597Ala
NM_007297.3:c.4648A>G	NP_009228.2:p.Thr1550Ala
NM_007298.3:c.1477A>G	NP_009229.2:p.Thr493Ala
NM_007299.3:c.1477A>G	NP_009230.2:p.Thr493Ala
NM_007300.3:c.4852A>G	NP_009231.2:p.Thr1618Ala
NR_027676.1:n.4925A>G
NM_007294.4:c.4789A>G MANE Select	NP_009225.1:p.Thr1597Ala
NM_007297.4:c.4648A>G	NP_009228.2:p.Thr1550Ala
NM_007299.4:c.1477A>G	NP_009230.2:p.Thr493Ala
NM_007300.4:c.4852A>G	NP_009231.2:p.Thr1618Ala
NR_027676.2:n.4966A>G