Canonical Allele Identifier: CA10592117

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 409298
• ClinVar RCV Id: RCV000473049 ; RCV000662893 ; RCV001022911 ; RCV004554778 ; RCV003607286
• dbSNP Id: rs1060502325
• gnomAD v4: 17-43071217-G-T
• MyVariant Identifiers: chr17:g.41223234G>T (hg19) ; chr17:g.43071217G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071217G>T , CM000679.2:g.43071217G>T	GRCh38
NC_000017.10:g.41223234G>T , CM000679.1:g.41223234G>T	GRCh37
NC_000017.9:g.38476760G>T	NCBI36
NG_005905.2:g.146767C>A , LRG_292:g.146767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4694C>A	ENSP00000417241.2:p.Ser1565Tyr
ENST00000470026.6:c.4697C>A	ENSP00000419274.2:p.Ser1566Tyr
ENST00000473961.6:c.4571C>A	ENSP00000420201.2:p.Ser1524Tyr
ENST00000476777.6:c.4691C>A	ENSP00000417554.2:p.Ser1564Tyr
ENST00000477152.6:c.4619C>A	ENSP00000419988.2:p.Ser1540Tyr
ENST00000478531.6:c.1385C>A	ENSP00000420412.2:p.Ser462Tyr
ENST00000489037.2:c.4619C>A	ENSP00000420781.2:p.Ser1540Tyr
ENST00000493919.6:c.1247C>A	ENSP00000418819.2:p.Ser416Tyr
ENST00000494123.6:c.4697C>A	ENSP00000419103.2:p.Ser1566Tyr
ENST00000497488.2:c.3809C>A	ENSP00000418986.2:p.Ser1270Tyr
ENST00000618469.2:c.4697C>A	ENSP00000478114.2:p.Ser1566Tyr
ENST00000634433.2:c.4574C>A	ENSP00000489431.2:p.Ser1525Tyr
ENST00000644379.2:c.4763C>A	ENSP00000496570.2:p.Ser1588Tyr
ENST00000644555.2:c.1247C>A	ENSP00000494614.2:p.Ser416Tyr
ENST00000652672.2:c.4556C>A	ENSP00000498906.2:p.Ser1519Tyr
ENST00000484087.6:c.1259C>A	ENSP00000419481.2:p.Ser420Tyr
ENST00000700182.1:c.1304C>A	ENSP00000514849.1:p.Ser435Tyr
ENST00000357654.9:c.4697C>A MANE Select	ENSP00000350283.3:p.Ser1566Tyr
ENST00000471181.7:c.4760C>A	ENSP00000418960.2:p.Ser1587Tyr
ENST00000644379.1:c.1084C>A
ENST00000352993.7:c.1271C>A	ENSP00000312236.5:p.Ser424Tyr
ENST00000357654.7:c.4697C>A	ENSP00000350283.3:p.Ser1566Tyr
ENST00000461221.5:c.*4480C>A	ENSP00000418548.1:n.*4480C>A
ENST00000468300.5:c.1385C>A	ENSP00000417148.1:p.Ser462Tyr
ENST00000471181.6:c.4760C>A	ENSP00000418960.2:p.Ser1587Tyr
ENST00000478531.5:c.1385C>A	ENSP00000420412.1:p.Ser462Tyr
ENST00000484087.5:c.1010C>A	ENSP00000419481.1:p.Ser337Tyr
ENST00000491747.6:c.1385C>A	ENSP00000420705.2:p.Ser462Tyr
ENST00000493795.5:c.4556C>A	ENSP00000418775.1:p.Ser1519Tyr
ENST00000493919.5:c.1247C>A	ENSP00000418819.1:p.Ser416Tyr
ENST00000586385.5:c.5-7266C>A	ENSP00000465818.1:n.5-7266C>A
ENST00000591534.5:c.170C>A	ENSP00000467329.1:p.Ser57Tyr
ENST00000591849.5:c.-98-21027C>A	ENSP00000465347.1:n.-98-21027C>A
NM_007294.3:c.4697C>A , LRG_292t1:c.4697C>A	NP_009225.1:p.Ser1566Tyr
NM_007297.3:c.4556C>A	NP_009228.2:p.Ser1519Tyr
NM_007298.3:c.1385C>A	NP_009229.2:p.Ser462Tyr
NM_007299.3:c.1385C>A	NP_009230.2:p.Ser462Tyr
NM_007300.3:c.4760C>A	NP_009231.2:p.Ser1587Tyr
NR_027676.1:n.4833C>A
NM_007294.4:c.4697C>A MANE Select	NP_009225.1:p.Ser1566Tyr
NM_007297.4:c.4556C>A	NP_009228.2:p.Ser1519Tyr
NM_007299.4:c.1385C>A	NP_009230.2:p.Ser462Tyr
NM_007300.4:c.4760C>A	NP_009231.2:p.Ser1587Tyr
NR_027676.2:n.4874C>A