Canonical Allele Identifier: CA002893

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55221
• ClinVar RCV Id: RCV000048586 ; RCV000077575 ; RCV000129129 ; RCV000236102 ; RCV000762998 ; RCV001001033
• dbSNP Id: rs80356885
• gnomAD v4: 17-43074482-C-T
• MyVariant Identifiers: chr17:g.41226499C>T (hg19) ; chr17:g.43074482C>T (hg38)
• PubMed: PMID:11504767 ; PMID:12402332 ; PMID:16267036 ; PMID:20960228 ; PMID:21702907 ; PMID:22006311 ; PMID:22009639 ; PMID:23192404 ; PMID:23982851 ; PMID:25863477 ; PMID:26250392 ; PMID:26295337 ; PMID:27082205

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074482C>T , CM000679.2:g.43074482C>T	GRCh38
NC_000017.10:g.41226499C>T , CM000679.1:g.41226499C>T	GRCh37
NC_000017.9:g.38480025C>T	NCBI36
NG_005905.2:g.143502G>A , LRG_292:g.143502G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4521G>A	ENSP00000417241.2:p.Trp1507Ter
ENST00000470026.6:c.4524G>A	ENSP00000419274.2:p.Trp1508Ter
ENST00000473961.6:c.4398G>A	ENSP00000420201.2:p.Trp1466Ter
ENST00000476777.6:c.4518G>A	ENSP00000417554.2:p.Trp1506Ter
ENST00000477152.6:c.4446G>A	ENSP00000419988.2:p.Trp1482Ter
ENST00000478531.6:c.1212G>A	ENSP00000420412.2:p.Trp404Ter
ENST00000489037.2:c.4446G>A	ENSP00000420781.2:p.Trp1482Ter
ENST00000493919.6:c.1074G>A	ENSP00000418819.2:p.Trp358Ter
ENST00000494123.6:c.4524G>A	ENSP00000419103.2:p.Trp1508Ter
ENST00000497488.2:c.3636G>A	ENSP00000418986.2:p.Trp1212Ter
ENST00000618469.2:c.4524G>A	ENSP00000478114.2:p.Trp1508Ter
ENST00000634433.2:c.4401G>A	ENSP00000489431.2:p.Trp1467Ter
ENST00000644379.2:c.4590G>A	ENSP00000496570.2:p.Trp1530Ter
ENST00000644555.2:c.1074G>A	ENSP00000494614.2:p.Trp358Ter
ENST00000652672.2:c.4383G>A	ENSP00000498906.2:p.Trp1461Ter
ENST00000484087.6:c.1086G>A	ENSP00000419481.2:p.Trp362Ter
ENST00000700182.1:c.1131G>A	ENSP00000514849.1:p.Trp377Ter
ENST00000357654.9:c.4524G>A MANE Select	ENSP00000350283.3:p.Trp1508Ter
ENST00000471181.7:c.4587G>A	ENSP00000418960.2:p.Trp1529Ter
ENST00000644379.1:c.911G>A
ENST00000352993.7:c.1098G>A	ENSP00000312236.5:p.Trp366Ter
ENST00000357654.7:c.4524G>A	ENSP00000350283.3:p.Trp1508Ter
ENST00000461221.5:c.*4307G>A	ENSP00000418548.1:n.*4307G>A
ENST00000468300.5:c.1212G>A	ENSP00000417148.1:p.Trp404Ter
ENST00000471181.6:c.4587G>A	ENSP00000418960.2:p.Trp1529Ter
ENST00000478531.5:c.1212G>A	ENSP00000420412.1:p.Trp404Ter
ENST00000484087.5:c.837G>A	ENSP00000419481.1:p.Trp279Ter
ENST00000491747.6:c.1212G>A	ENSP00000420705.2:p.Trp404Ter
ENST00000493795.5:c.4383G>A	ENSP00000418775.1:p.Trp1461Ter
ENST00000493919.5:c.1074G>A	ENSP00000418819.1:p.Trp358Ter
ENST00000586385.5:c.5-10531G>A	ENSP00000465818.1:n.5-10531G>A
ENST00000591534.5:c.-4G>A	ENSP00000467329.1:n.-4G>A
ENST00000591849.5:c.-98-24292G>A	ENSP00000465347.1:n.-98-24292G>A
NM_007294.3:c.4524G>A , LRG_292t1:c.4524G>A	NP_009225.1:p.Trp1508Ter
NM_007297.3:c.4383G>A	NP_009228.2:p.Trp1461Ter
NM_007298.3:c.1212G>A	NP_009229.2:p.Trp404Ter
NM_007299.3:c.1212G>A	NP_009230.2:p.Trp404Ter
NM_007300.3:c.4587G>A	NP_009231.2:p.Trp1529Ter
NR_027676.1:n.4660G>A
NM_007294.4:c.4524G>A MANE Select	NP_009225.1:p.Trp1508Ter
NM_007297.4:c.4383G>A	NP_009228.2:p.Trp1461Ter
NM_007299.4:c.1212G>A	NP_009230.2:p.Trp404Ter
NM_007300.4:c.4587G>A	NP_009231.2:p.Trp1529Ter
NR_027676.2:n.4701G>A