Canonical Allele Identifier: CA003392

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55482
• ClinVar RCV Id: RCV000112580 ; RCV000567938 ; RCV001378200 ; RCV001811343
• dbSNP Id: rs80357442
• MyVariant Identifiers: chr17:g.41209094C>G (hg19) ; chr17:g.43057077C>G (hg38)
• PubMed: PMID:14534301 ; PMID:15172985 ; PMID:15235020 ; PMID:15385441 ; PMID:17305420 ; PMID:20516115 ; PMID:21447777

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057077C>G , CM000679.2:g.43057077C>G	GRCh38
NC_000017.10:g.41209094C>G , CM000679.1:g.41209094C>G	GRCh37
NC_000017.9:g.38462620C>G	NCBI36
NG_005905.2:g.160907G>C , LRG_292:g.160907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5249G>C	ENSP00000417241.2:p.Arg1750Pro
ENST00000470026.6:c.5252G>C	ENSP00000419274.2:p.Arg1751Pro
ENST00000473961.6:c.5126G>C	ENSP00000420201.2:p.Arg1709Pro
ENST00000476777.6:c.5246G>C	ENSP00000417554.2:p.Arg1749Pro
ENST00000477152.6:c.5174G>C	ENSP00000419988.2:p.Arg1725Pro
ENST00000478531.6:c.1940G>C	ENSP00000420412.2:p.Arg647Pro
ENST00000489037.2:c.5174G>C	ENSP00000420781.2:p.Arg1725Pro
ENST00000493919.6:c.1802G>C	ENSP00000418819.2:p.Arg601Pro
ENST00000494123.6:c.5252G>C	ENSP00000419103.2:p.Arg1751Pro
ENST00000497488.2:c.4364G>C	ENSP00000418986.2:p.Arg1455Pro
ENST00000618469.2:c.5252G>C	ENSP00000478114.2:p.Arg1751Pro
ENST00000634433.2:c.5129G>C	ENSP00000489431.2:p.Arg1710Pro
ENST00000644379.2:c.5318G>C	ENSP00000496570.2:p.Arg1773Pro
ENST00000644555.2:c.1802G>C	ENSP00000494614.2:p.Arg601Pro
ENST00000652672.2:c.5111G>C	ENSP00000498906.2:p.Arg1704Pro
ENST00000484087.6:c.1814G>C	ENSP00000419481.2:p.Arg605Pro
ENST00000357654.9:c.5252G>C MANE Select	ENSP00000350283.3:p.Arg1751Pro
ENST00000471181.7:c.5315G>C	ENSP00000418960.2:p.Arg1772Pro
ENST00000644379.1:c.1639G>C
ENST00000352993.7:c.1826G>C	ENSP00000312236.5:p.Arg609Pro
ENST00000357654.7:c.5252G>C	ENSP00000350283.3:p.Arg1751Pro
ENST00000461221.5:c.*5035G>C	ENSP00000418548.1:n.*5035G>C
ENST00000468300.5:c.1940G>C	ENSP00000417148.1:p.Arg647Pro
ENST00000471181.6:c.5315G>C	ENSP00000418960.2:p.Arg1772Pro
ENST00000491747.6:c.1940G>C	ENSP00000420705.2:p.Arg647Pro
ENST00000493795.5:c.5111G>C	ENSP00000418775.1:p.Arg1704Pro
ENST00000586385.5:c.182G>C	ENSP00000465818.1:p.Arg61Pro
ENST00000591534.5:c.725G>C	ENSP00000467329.1:p.Arg242Pro
ENST00000591849.5:c.-98-6887G>C	ENSP00000465347.1:n.-98-6887G>C
NM_007294.3:c.5252G>C , LRG_292t1:c.5252G>C	NP_009225.1:p.Arg1751Pro
NM_007297.3:c.5111G>C	NP_009228.2:p.Arg1704Pro
NM_007298.3:c.1940G>C	NP_009229.2:p.Arg647Pro
NM_007299.3:c.1940G>C	NP_009230.2:p.Arg647Pro
NM_007300.3:c.5315G>C	NP_009231.2:p.Arg1772Pro
NR_027676.1:n.5388G>C
NM_007294.4:c.5252G>C MANE Select	NP_009225.1:p.Arg1751Pro
NM_007297.4:c.5111G>C	NP_009228.2:p.Arg1704Pro
NM_007299.4:c.1940G>C	NP_009230.2:p.Arg647Pro
NM_007300.4:c.5315G>C	NP_009231.2:p.Arg1772Pro
NR_027676.2:n.5429G>C