Canonical Allele Identifier: CA003674

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55601
• ClinVar RCV Id: RCV000049020 ; RCV000077627 ; RCV000131862 ; RCV000203652 ; RCV000238956 ; RCV000240766 ; RCV000785213 ; RCV000735447 ; RCV001554249 ; RCV003162421 ; RCV002496720 ; RCV001353835 ; RCV001527479
• dbSNP Id: rs41293465
• gnomAD v2: 17-41197784-G-A
• gnomAD v4: 17-43045767-G-A
• MyVariant Identifiers: chr17:g.41197784G>A (hg19) ; chr17:g.43045767G>A (hg38)
• PubMed: PMID:8554067 ; PMID:9667259 ; PMID:9760198 ; PMID:10486320 ; PMID:10505028 ; PMID:10699917 ; PMID:11260866 ; PMID:11739404 ; PMID:11802209 ; PMID:11920621 ; PMID:12360400 ; PMID:12393792 ; PMID:12601471 ; PMID:12960223 ; PMID:16528604 ; PMID:16644204 ; PMID:16683254 ; PMID:16782705 ; PMID:16998791 ; PMID:17591843 ; PMID:17688236 ; PMID:18375895 ; PMID:18446624 ; PMID:18465347 ; PMID:20051372 ; PMID:20104584 ; PMID:20727672 ; PMID:21702907 ; PMID:24249303 ; PMID:24504028 ; PMID:25085752 ; PMID:25682074 ; PMID:26028024 ; PMID:26295337 ; PMID:26541979 ; PMID:27257965

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045767G>A , CM000679.2:g.43045767G>A	GRCh38
NC_000017.10:g.41197784G>A , CM000679.1:g.41197784G>A	GRCh37
NC_000017.9:g.38451310G>A	NCBI36
NG_005905.2:g.172217C>T , LRG_292:g.172217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5500C>T	ENSP00000417241.2:p.Arg1834Ter
ENST00000470026.6:c.5503C>T	ENSP00000419274.2:p.Arg1835Ter
ENST00000473961.6:c.5377C>T	ENSP00000420201.2:p.Arg1793Ter
ENST00000476777.6:c.5497C>T	ENSP00000417554.2:p.Arg1833Ter
ENST00000477152.6:c.5425C>T	ENSP00000419988.2:p.Arg1809Ter
ENST00000478531.6:c.2191C>T	ENSP00000420412.2:p.Arg731Ter
ENST00000489037.2:c.5425C>T	ENSP00000420781.2:p.Arg1809Ter
ENST00000493919.6:c.2053C>T	ENSP00000418819.2:p.Arg685Ter
ENST00000494123.6:c.5503C>T	ENSP00000419103.2:p.Arg1835Ter
ENST00000497488.2:c.4615C>T	ENSP00000418986.2:p.Arg1539Ter
ENST00000618469.2:c.5503C>T	ENSP00000478114.2:p.Arg1835Ter
ENST00000634433.2:c.5380C>T	ENSP00000489431.2:p.Arg1794Ter
ENST00000644379.2:c.5569C>T	ENSP00000496570.2:p.Arg1857Ter
ENST00000644555.2:c.2053C>T	ENSP00000494614.2:p.Arg685Ter
ENST00000652672.2:c.5362C>T	ENSP00000498906.2:p.Arg1788Ter
ENST00000484087.6:c.2065C>T	ENSP00000419481.2:p.Arg689Ter
ENST00000700081.1:n.1386C>T
ENST00000700082.1:n.867C>T
ENST00000357654.9:c.5503C>T MANE Select	ENSP00000350283.3:p.Arg1835Ter
ENST00000471181.7:c.5566C>T	ENSP00000418960.2:p.Arg1856Ter
ENST00000644379.1:c.1890C>T
ENST00000352993.7:c.2077C>T	ENSP00000312236.5:p.Arg693Ter
ENST00000357654.7:c.5503C>T	ENSP00000350283.3:p.Arg1835Ter
ENST00000461221.5:c.*5286C>T	ENSP00000418548.1:n.*5286C>T
ENST00000468300.5:c.*17C>T	ENSP00000417148.1:n.*17C>T
ENST00000471181.6:c.5566C>T	ENSP00000418960.2:p.Arg1856Ter
ENST00000491747.6:c.2191C>T	ENSP00000420705.2:p.Arg731Ter
ENST00000493795.5:c.5362C>T	ENSP00000418775.1:p.Arg1788Ter
ENST00000586385.5:c.433C>T	ENSP00000465818.1:p.Arg145Ter
ENST00000591534.5:c.976C>T	ENSP00000467329.1:p.Arg326Ter
ENST00000591849.5:c.202C>T	ENSP00000465347.1:p.Arg68Ter
NM_007294.3:c.5503C>T , LRG_292t1:c.5503C>T	NP_009225.1:p.Arg1835Ter
NM_007297.3:c.5362C>T	NP_009228.2:p.Arg1788Ter
NM_007298.3:c.2191C>T	NP_009229.2:p.Arg731Ter
NM_007299.3:c.*17C>T	NP_009230.2:n.*17C>T
NM_007300.3:c.5566C>T	NP_009231.2:p.Arg1856Ter
NR_027676.1:n.5639C>T
NM_007294.4:c.5503C>T MANE Select	NP_009225.1:p.Arg1835Ter
NM_007297.4:c.5362C>T	NP_009228.2:p.Arg1788Ter
NM_007299.4:c.*17C>T	NP_009230.2:n.*17C>T
NM_007300.4:c.5566C>T	NP_009231.2:p.Arg1856Ter
NR_027676.2:n.5680C>T