Canonical Allele Identifier: CA003398

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55488
• ClinVar RCV Id: RCV000577271 ; RCV001072582 ; RCV000759559 ; RCV001379222 ; RCV001554320
• dbSNP Id: rs397509246
• MyVariant Identifiers: chr17:g.41209088C>G (hg19) ; chr17:g.43057071C>G (hg38)
• PubMed: PMID:2144777 ; PMID:17308087

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057071C>G , CM000679.2:g.43057071C>G	GRCh38
NC_000017.10:g.41209088C>G , CM000679.1:g.41209088C>G	GRCh37
NC_000017.9:g.38462614C>G	NCBI36
NG_005905.2:g.160913G>C , LRG_292:g.160913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5255G>C	ENSP00000417241.2:p.Arg1752Thr
ENST00000470026.6:c.5258G>C	ENSP00000419274.2:p.Arg1753Thr
ENST00000473961.6:c.5132G>C	ENSP00000420201.2:p.Arg1711Thr
ENST00000476777.6:c.5252G>C	ENSP00000417554.2:p.Arg1751Thr
ENST00000477152.6:c.5180G>C	ENSP00000419988.2:p.Arg1727Thr
ENST00000478531.6:c.1946G>C	ENSP00000420412.2:p.Arg649Thr
ENST00000489037.2:c.5180G>C	ENSP00000420781.2:p.Arg1727Thr
ENST00000493919.6:c.1808G>C	ENSP00000418819.2:p.Arg603Thr
ENST00000494123.6:c.5258G>C	ENSP00000419103.2:p.Arg1753Thr
ENST00000497488.2:c.4370G>C	ENSP00000418986.2:p.Arg1457Thr
ENST00000618469.2:c.5258G>C	ENSP00000478114.2:p.Arg1753Thr
ENST00000634433.2:c.5135G>C	ENSP00000489431.2:p.Arg1712Thr
ENST00000644379.2:c.5324G>C	ENSP00000496570.2:p.Arg1775Thr
ENST00000644555.2:c.1808G>C	ENSP00000494614.2:p.Arg603Thr
ENST00000652672.2:c.5117G>C	ENSP00000498906.2:p.Arg1706Thr
ENST00000484087.6:c.1820G>C	ENSP00000419481.2:p.Arg607Thr
ENST00000357654.9:c.5258G>C MANE Select	ENSP00000350283.3:p.Arg1753Thr
ENST00000471181.7:c.5321G>C	ENSP00000418960.2:p.Arg1774Thr
ENST00000644379.1:c.1645G>C
ENST00000352993.7:c.1832G>C	ENSP00000312236.5:p.Arg611Thr
ENST00000357654.7:c.5258G>C	ENSP00000350283.3:p.Arg1753Thr
ENST00000461221.5:c.*5041G>C	ENSP00000418548.1:n.*5041G>C
ENST00000468300.5:c.1946G>C	ENSP00000417148.1:p.Arg649Thr
ENST00000471181.6:c.5321G>C	ENSP00000418960.2:p.Arg1774Thr
ENST00000491747.6:c.1946G>C	ENSP00000420705.2:p.Arg649Thr
ENST00000493795.5:c.5117G>C	ENSP00000418775.1:p.Arg1706Thr
ENST00000586385.5:c.188G>C	ENSP00000465818.1:p.Arg63Thr
ENST00000591534.5:c.731G>C	ENSP00000467329.1:p.Arg244Thr
ENST00000591849.5:c.-98-6881G>C	ENSP00000465347.1:n.-98-6881G>C
NM_007294.3:c.5258G>C , LRG_292t1:c.5258G>C	NP_009225.1:p.Arg1753Thr
NM_007297.3:c.5117G>C	NP_009228.2:p.Arg1706Thr
NM_007298.3:c.1946G>C	NP_009229.2:p.Arg649Thr
NM_007299.3:c.1946G>C	NP_009230.2:p.Arg649Thr
NM_007300.3:c.5321G>C	NP_009231.2:p.Arg1774Thr
NR_027676.1:n.5394G>C
NM_007294.4:c.5258G>C MANE Select	NP_009225.1:p.Arg1753Thr
NM_007297.4:c.5117G>C	NP_009228.2:p.Arg1706Thr
NM_007299.4:c.1946G>C	NP_009230.2:p.Arg649Thr
NM_007300.4:c.5321G>C	NP_009231.2:p.Arg1774Thr
NR_027676.2:n.5435G>C