Canonical Allele Identifier: CA10593013

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1346271
• ClinVar RCV Id: RCV002029927
• dbSNP Id: rs2154144450
• MyVariant Identifiers: chr17:g.41234423T>G (hg19) ; chr17:g.43082406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082406T>G , CM000679.2:g.43082406T>G	GRCh38
NC_000017.10:g.41234423T>G , CM000679.1:g.41234423T>G	GRCh37
NC_000017.9:g.38487949T>G	NCBI36
NG_005905.2:g.135578A>C , LRG_292:g.135578A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4355A>C	ENSP00000417241.2:p.Lys1452Thr
ENST00000470026.6:c.4355A>C	ENSP00000419274.2:p.Lys1452Thr
ENST00000473961.6:c.4229A>C	ENSP00000420201.2:p.Lys1410Thr
ENST00000476777.6:c.4349A>C	ENSP00000417554.2:p.Lys1450Thr
ENST00000477152.6:c.4277A>C	ENSP00000419988.2:p.Lys1426Thr
ENST00000478531.6:c.1043A>C	ENSP00000420412.2:p.Lys348Thr
ENST00000489037.2:c.4277A>C	ENSP00000420781.2:p.Lys1426Thr
ENST00000493919.6:c.905A>C	ENSP00000418819.2:p.Lys302Thr
ENST00000494123.6:c.4355A>C	ENSP00000419103.2:p.Lys1452Thr
ENST00000497488.2:c.3467A>C	ENSP00000418986.2:p.Lys1156Thr
ENST00000618469.2:c.4355A>C	ENSP00000478114.2:p.Lys1452Thr
ENST00000634433.2:c.4232A>C	ENSP00000489431.2:p.Lys1411Thr
ENST00000644379.2:c.4355A>C	ENSP00000496570.2:p.Lys1452Thr
ENST00000644555.2:c.905A>C	ENSP00000494614.2:p.Lys302Thr
ENST00000652672.2:c.4214A>C	ENSP00000498906.2:p.Lys1405Thr
ENST00000484087.6:c.920A>C	ENSP00000419481.2:p.Lys307Thr
ENST00000700182.1:c.965A>C	ENSP00000514849.1:p.Lys322Thr
ENST00000357654.9:c.4355A>C MANE Select	ENSP00000350283.3:p.Lys1452Thr
ENST00000471181.7:c.4355A>C	ENSP00000418960.2:p.Lys1452Thr
ENST00000644379.1:c.676A>C
ENST00000352993.7:c.929A>C	ENSP00000312236.5:p.Lys310Thr
ENST00000357654.7:c.4355A>C	ENSP00000350283.3:p.Lys1452Thr
ENST00000461221.5:c.*4138A>C	ENSP00000418548.1:n.*4138A>C
ENST00000461574.1:c.649A>C
ENST00000468300.5:c.1046A>C	ENSP00000417148.1:p.Lys349Thr
ENST00000471181.6:c.4355A>C	ENSP00000418960.2:p.Lys1452Thr
ENST00000478531.5:c.1043A>C	ENSP00000420412.1:p.Lys348Thr
ENST00000484087.5:c.668A>C	ENSP00000419481.1:p.Lys223Thr
ENST00000487825.5:c.671A>C	ENSP00000418212.1:p.Lys224Thr
ENST00000491747.6:c.1046A>C	ENSP00000420705.2:p.Lys349Thr
ENST00000493795.5:c.4214A>C	ENSP00000418775.1:p.Lys1405Thr
ENST00000493919.5:c.905A>C	ENSP00000418819.1:p.Lys302Thr
ENST00000586385.5:c.5-18455A>C	ENSP00000465818.1:n.5-18455A>C
ENST00000591534.5:c.-43-7885A>C	ENSP00000467329.1:n.-43-7885A>C
ENST00000591849.5:c.-98-32216A>C	ENSP00000465347.1:n.-98-32216A>C
ENST00000621897.1:n.249A>C
NM_007294.3:c.4355A>C , LRG_292t1:c.4355A>C	NP_009225.1:p.Lys1452Thr
NM_007297.3:c.4214A>C	NP_009228.2:p.Lys1405Thr
NM_007298.3:c.1046A>C	NP_009229.2:p.Lys349Thr
NM_007299.3:c.1046A>C	NP_009230.2:p.Lys349Thr
NM_007300.3:c.4355A>C	NP_009231.2:p.Lys1452Thr
NR_027676.1:n.4491A>C
NM_007294.4:c.4355A>C MANE Select	NP_009225.1:p.Lys1452Thr
NM_007297.4:c.4214A>C	NP_009228.2:p.Lys1405Thr
NM_007299.4:c.1046A>C	NP_009230.2:p.Lys349Thr
NM_007300.4:c.4355A>C	NP_009231.2:p.Lys1452Thr
NR_027676.2:n.4532A>C