Canonical Allele Identifier: CA10580513

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 230516
• ClinVar RCV Id: RCV000221006 ; RCV000495005 ; RCV003644936
• dbSNP Id: rs876658608
• MyVariant Identifiers: chr17:g.41226373T>C (hg19) ; chr17:g.43074356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074356T>C , CM000679.2:g.43074356T>C	GRCh38
NC_000017.10:g.41226373T>C , CM000679.1:g.41226373T>C	GRCh37
NC_000017.9:g.38479899T>C	NCBI36
NG_005905.2:g.143628A>G , LRG_292:g.143628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4647A>G	ENSP00000417241.2:p.Thr1549=
ENST00000470026.6:c.4650A>G	ENSP00000419274.2:p.Thr1550=
ENST00000473961.6:c.4524A>G	ENSP00000420201.2:p.Thr1508=
ENST00000476777.6:c.4644A>G	ENSP00000417554.2:p.Thr1548=
ENST00000477152.6:c.4572A>G	ENSP00000419988.2:p.Thr1524=
ENST00000478531.6:c.1338A>G	ENSP00000420412.2:p.Thr446=
ENST00000489037.2:c.4572A>G	ENSP00000420781.2:p.Thr1524=
ENST00000493919.6:c.1200A>G	ENSP00000418819.2:p.Thr400=
ENST00000494123.6:c.4650A>G	ENSP00000419103.2:p.Thr1550=
ENST00000497488.2:c.3762A>G	ENSP00000418986.2:p.Thr1254=
ENST00000618469.2:c.4650A>G	ENSP00000478114.2:p.Thr1550=
ENST00000634433.2:c.4527A>G	ENSP00000489431.2:p.Thr1509=
ENST00000644379.2:c.4716A>G	ENSP00000496570.2:p.Thr1572=
ENST00000644555.2:c.1200A>G	ENSP00000494614.2:p.Thr400=
ENST00000652672.2:c.4509A>G	ENSP00000498906.2:p.Thr1503=
ENST00000484087.6:c.1212A>G	ENSP00000419481.2:p.Thr404=
ENST00000700182.1:c.1257A>G	ENSP00000514849.1:p.Thr419=
ENST00000357654.9:c.4650A>G MANE Select	ENSP00000350283.3:p.Thr1550=
ENST00000471181.7:c.4713A>G	ENSP00000418960.2:p.Thr1571=
ENST00000644379.1:c.1037A>G
ENST00000352993.7:c.1224A>G	ENSP00000312236.5:p.Thr408=
ENST00000357654.7:c.4650A>G	ENSP00000350283.3:p.Thr1550=
ENST00000461221.5:c.*4433A>G	ENSP00000418548.1:n.*4433A>G
ENST00000468300.5:c.1338A>G	ENSP00000417148.1:p.Thr446=
ENST00000471181.6:c.4713A>G	ENSP00000418960.2:p.Thr1571=
ENST00000478531.5:c.1338A>G	ENSP00000420412.1:p.Thr446=
ENST00000484087.5:c.963A>G	ENSP00000419481.1:p.Thr321=
ENST00000491747.6:c.1338A>G	ENSP00000420705.2:p.Thr446=
ENST00000493795.5:c.4509A>G	ENSP00000418775.1:p.Thr1503=
ENST00000493919.5:c.1200A>G	ENSP00000418819.1:p.Thr400=
ENST00000586385.5:c.5-10405A>G	ENSP00000465818.1:n.5-10405A>G
ENST00000591534.5:c.123A>G	ENSP00000467329.1:p.Thr41=
ENST00000591849.5:c.-98-24166A>G	ENSP00000465347.1:n.-98-24166A>G
NM_007294.3:c.4650A>G , LRG_292t1:c.4650A>G	NP_009225.1:p.Thr1550=
NM_007297.3:c.4509A>G	NP_009228.2:p.Thr1503=
NM_007298.3:c.1338A>G	NP_009229.2:p.Thr446=
NM_007299.3:c.1338A>G	NP_009230.2:p.Thr446=
NM_007300.3:c.4713A>G	NP_009231.2:p.Thr1571=
NR_027676.1:n.4786A>G
NM_007294.4:c.4650A>G MANE Select	NP_009225.1:p.Thr1550=
NM_007297.4:c.4509A>G	NP_009228.2:p.Thr1503=
NM_007299.4:c.1338A>G	NP_009230.2:p.Thr446=
NM_007300.4:c.4713A>G	NP_009231.2:p.Thr1571=
NR_027676.2:n.4827A>G