Canonical Allele Identifier: CA002646
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37571
dbSNP Id: rs80356986

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091002G>C , CM000679.2:g.43091002G>C GRCh38
NC_000017.10:g.41243019G>C , CM000679.1:g.41243019G>C GRCh37
NC_000017.9:g.38496545G>C NCBI36
NG_005905.2:g.126982C>G , LRG_292:g.126982C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4127C>G ENSP00000417241.2:p.Thr1376Arg
ENST00000470026.6:c.4127C>G ENSP00000419274.2:p.Thr1376Arg
ENST00000473961.6:c.4001C>G ENSP00000420201.2:p.Thr1334Arg
ENST00000476777.6:c.4124C>G ENSP00000417554.2:p.Thr1375Arg
ENST00000477152.6:c.4049C>G ENSP00000419988.2:p.Thr1350Arg
ENST00000478531.6:c.815C>G ENSP00000420412.2:p.Thr272Arg
ENST00000489037.2:c.4049C>G ENSP00000420781.2:p.Thr1350Arg
ENST00000493919.6:c.677C>G ENSP00000418819.2:p.Thr226Arg
ENST00000494123.6:c.4127C>G ENSP00000419103.2:p.Thr1376Arg
ENST00000497488.2:c.3239C>G ENSP00000418986.2:p.Thr1080Arg
ENST00000618469.2:c.4127C>G ENSP00000478114.2:p.Thr1376Arg
ENST00000634433.2:c.4004C>G ENSP00000489431.2:p.Thr1335Arg
ENST00000644379.2:c.4127C>G ENSP00000496570.2:p.Thr1376Arg
ENST00000644555.2:c.677C>G ENSP00000494614.2:p.Thr226Arg
ENST00000652672.2:c.3986C>G ENSP00000498906.2:p.Thr1329Arg
ENST00000484087.6:c.695C>G ENSP00000419481.2:p.Thr232Arg
ENST00000700182.1:c.737C>G ENSP00000514849.1:p.Thr246Arg
ENST00000357654.9:c.4127C>G MANE Select ENSP00000350283.3:p.Thr1376Arg
ENST00000471181.7:c.4127C>G ENSP00000418960.2:p.Thr1376Arg
ENST00000644379.1:c.448C>G
ENST00000352993.7:c.701C>G ENSP00000312236.5:p.Thr234Arg
ENST00000357654.7:c.4127C>G ENSP00000350283.3:p.Thr1376Arg
ENST00000461221.5:c.*3910C>G ENSP00000418548.1:n.*3910C>G
ENST00000461574.1:c.421C>G
ENST00000468300.5:c.818C>G ENSP00000417148.1:p.Thr273Arg
ENST00000471181.6:c.4127C>G ENSP00000418960.2:p.Thr1376Arg
ENST00000478531.5:c.815C>G ENSP00000420412.1:p.Thr272Arg
ENST00000484087.5:c.440C>G ENSP00000419481.1:p.Thr147Arg
ENST00000487825.5:c.443C>G ENSP00000418212.1:p.Thr148Arg
ENST00000491747.6:c.818C>G ENSP00000420705.2:p.Thr273Arg
ENST00000493795.5:c.3986C>G ENSP00000418775.1:p.Thr1329Arg
ENST00000493919.5:c.677C>G ENSP00000418819.1:p.Thr226Arg
ENST00000586385.5:c.5-27051C>G ENSP00000465818.1:n.5-27051C>G
ENST00000591534.5:c.-43-16481C>G ENSP00000467329.1:n.-43-16481C>G
ENST00000591849.5:c.-99+34269C>G ENSP00000465347.1:n.-99+34269C>G
NM_007294.3:c.4127C>G , LRG_292t1:c.4127C>G NP_009225.1:p.Thr1376Arg
NM_007297.3:c.3986C>G NP_009228.2:p.Thr1329Arg
NM_007298.3:c.818C>G NP_009229.2:p.Thr273Arg
NM_007299.3:c.818C>G NP_009230.2:p.Thr273Arg
NM_007300.3:c.4127C>G NP_009231.2:p.Thr1376Arg
NR_027676.1:n.4263C>G
NM_007294.4:c.4127C>G MANE Select NP_009225.1:p.Thr1376Arg
NM_007297.4:c.3986C>G NP_009228.2:p.Thr1329Arg
NM_007299.4:c.818C>G NP_009230.2:p.Thr273Arg
NM_007300.4:c.4127C>G NP_009231.2:p.Thr1376Arg
NR_027676.2:n.4304C>G