Canonical Allele Identifier: CA003826

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55673
• ClinVar RCV Id: RCV000112774 ; RCV000214304 ; RCV002513669
• dbSNP Id: rs80356990
• MyVariant Identifiers: chr17:g.41246841G>C (hg19) ; chr17:g.43094824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094824G>C , CM000679.2:g.43094824G>C	GRCh38
NC_000017.10:g.41246841G>C , CM000679.1:g.41246841G>C	GRCh37
NC_000017.9:g.38500367G>C	NCBI36
NG_005905.2:g.123160C>G , LRG_292:g.123160C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.771C>G
ENST00000461574.2:c.707C>G	ENSP00000417241.2:p.Thr236Ser
ENST00000470026.6:c.707C>G	ENSP00000419274.2:p.Thr236Ser
ENST00000473961.6:c.581C>G	ENSP00000420201.2:p.Thr194Ser
ENST00000476777.6:c.704C>G	ENSP00000417554.2:p.Thr235Ser
ENST00000477152.6:c.629C>G	ENSP00000419988.2:p.Thr210Ser
ENST00000478531.6:c.704C>G	ENSP00000420412.2:p.Thr235Ser
ENST00000489037.2:c.629C>G	ENSP00000420781.2:p.Thr210Ser
ENST00000493919.6:c.566C>G	ENSP00000418819.2:p.Thr189Ser
ENST00000494123.6:c.707C>G	ENSP00000419103.2:p.Thr236Ser
ENST00000497488.2:c.-182C>G	ENSP00000418986.2:n.-182C>G
ENST00000618469.2:c.707C>G	ENSP00000478114.2:p.Thr236Ser
ENST00000634433.2:c.584C>G	ENSP00000489431.2:p.Thr195Ser
ENST00000644379.2:c.707C>G	ENSP00000496570.2:p.Thr236Ser
ENST00000644555.2:c.566C>G	ENSP00000494614.2:p.Thr189Ser
ENST00000652672.2:c.566C>G	ENSP00000498906.2:p.Thr189Ser
ENST00000484087.6:c.584C>G	ENSP00000419481.2:p.Thr195Ser
ENST00000700182.1:c.626C>G	ENSP00000514849.1:p.Thr209Ser
ENST00000700183.1:c.*715C>G	ENSP00000514850.1:n.*715C>G
ENST00000357654.9:c.707C>G MANE Select	ENSP00000350283.3:p.Thr236Ser
ENST00000471181.7:c.707C>G	ENSP00000418960.2:p.Thr236Ser
ENST00000642945.1:c.*581C>G	ENSP00000495897.1:n.*581C>G
ENST00000652672.1:c.566C>G	ENSP00000498906.1:p.Thr189Ser
ENST00000352993.7:c.670+1022C>G	ENSP00000312236.5:n.670+1022C>G
ENST00000354071.7:c.707C>G	ENSP00000326002.7:p.Thr236Ser
ENST00000357654.7:c.707C>G	ENSP00000350283.3:p.Thr236Ser
ENST00000412061.3:c.58C>G
ENST00000461221.5:c.*490C>G	ENSP00000418548.1:n.*490C>G
ENST00000468300.5:c.707C>G	ENSP00000417148.1:p.Thr236Ser
ENST00000470026.5:c.707C>G	ENSP00000419274.1:p.Thr236Ser
ENST00000471181.6:c.707C>G	ENSP00000418960.2:p.Thr236Ser
ENST00000473961.5:c.304C>G
ENST00000477152.5:c.629C>G	ENSP00000419988.1:p.Thr210Ser
ENST00000478531.5:c.704C>G	ENSP00000420412.1:p.Thr235Ser
ENST00000484087.5:c.329C>G	ENSP00000419481.1:p.Thr110Ser
ENST00000487825.5:c.332C>G	ENSP00000418212.1:p.Thr111Ser
ENST00000491747.6:c.707C>G	ENSP00000420705.2:p.Thr236Ser
ENST00000492859.5:c.*643C>G	ENSP00000420253.1:n.*643C>G
ENST00000493795.5:c.566C>G	ENSP00000418775.1:p.Thr189Ser
ENST00000493919.5:c.566C>G	ENSP00000418819.1:p.Thr189Ser
ENST00000494123.5:c.707C>G	ENSP00000419103.1:p.Thr236Ser
ENST00000497488.1:c.-182C>G	ENSP00000418986.1:n.-182C>G
ENST00000586385.5:c.4+30358C>G	ENSP00000465818.1:n.4+30358C>G
ENST00000591534.5:c.-43-20303C>G	ENSP00000467329.1:n.-43-20303C>G
ENST00000591849.5:c.-99+30447C>G	ENSP00000465347.1:n.-99+30447C>G
ENST00000634433.1:c.584C>G	ENSP00000489431.1:p.Thr195Ser
NM_007294.3:c.707C>G , LRG_292t1:c.707C>G	NP_009225.1:p.Thr236Ser
NM_007297.3:c.566C>G	NP_009228.2:p.Thr189Ser
NM_007298.3:c.707C>G	NP_009229.2:p.Thr236Ser
NM_007299.3:c.707C>G	NP_009230.2:p.Thr236Ser
NM_007300.3:c.707C>G	NP_009231.2:p.Thr236Ser
NR_027676.1:n.843C>G
NM_007294.4:c.707C>G MANE Select	NP_009225.1:p.Thr236Ser
NM_007297.4:c.566C>G	NP_009228.2:p.Thr189Ser
NM_007299.4:c.707C>G	NP_009230.2:p.Thr236Ser
NM_007300.4:c.707C>G	NP_009231.2:p.Thr236Ser
NR_027676.2:n.884C>G