Canonical Allele Identifier: CA10592292

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 419383
• ClinVar RCV Id: RCV000484247 ; RCV000637536 ; RCV000766451 ; RCV000773185
• dbSNP Id: rs70953659
• MyVariant Identifiers: chr17:g.41226413T>C (hg19) ; chr17:g.43074396T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074396T>C , CM000679.2:g.43074396T>C	GRCh38
NC_000017.10:g.41226413T>C , CM000679.1:g.41226413T>C	GRCh37
NC_000017.9:g.38479939T>C	NCBI36
NG_005905.2:g.143588A>G , LRG_292:g.143588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4607A>G	ENSP00000417241.2:p.Gln1536Arg
ENST00000470026.6:c.4610A>G	ENSP00000419274.2:p.Gln1537Arg
ENST00000473961.6:c.4484A>G	ENSP00000420201.2:p.Gln1495Arg
ENST00000476777.6:c.4604A>G	ENSP00000417554.2:p.Gln1535Arg
ENST00000477152.6:c.4532A>G	ENSP00000419988.2:p.Gln1511Arg
ENST00000478531.6:c.1298A>G	ENSP00000420412.2:p.Gln433Arg
ENST00000489037.2:c.4532A>G	ENSP00000420781.2:p.Gln1511Arg
ENST00000493919.6:c.1160A>G	ENSP00000418819.2:p.Gln387Arg
ENST00000494123.6:c.4610A>G	ENSP00000419103.2:p.Gln1537Arg
ENST00000497488.2:c.3722A>G	ENSP00000418986.2:p.Gln1241Arg
ENST00000618469.2:c.4610A>G	ENSP00000478114.2:p.Gln1537Arg
ENST00000634433.2:c.4487A>G	ENSP00000489431.2:p.Gln1496Arg
ENST00000644379.2:c.4676A>G	ENSP00000496570.2:p.Gln1559Arg
ENST00000644555.2:c.1160A>G	ENSP00000494614.2:p.Gln387Arg
ENST00000652672.2:c.4469A>G	ENSP00000498906.2:p.Gln1490Arg
ENST00000484087.6:c.1172A>G	ENSP00000419481.2:p.Gln391Arg
ENST00000700182.1:c.1217A>G	ENSP00000514849.1:p.Gln406Arg
ENST00000357654.9:c.4610A>G MANE Select	ENSP00000350283.3:p.Gln1537Arg
ENST00000471181.7:c.4673A>G	ENSP00000418960.2:p.Gln1558Arg
ENST00000644379.1:c.997A>G
ENST00000352993.7:c.1184A>G	ENSP00000312236.5:p.Gln395Arg
ENST00000357654.7:c.4610A>G	ENSP00000350283.3:p.Gln1537Arg
ENST00000461221.5:c.*4393A>G	ENSP00000418548.1:n.*4393A>G
ENST00000468300.5:c.1298A>G	ENSP00000417148.1:p.Gln433Arg
ENST00000471181.6:c.4673A>G	ENSP00000418960.2:p.Gln1558Arg
ENST00000478531.5:c.1298A>G	ENSP00000420412.1:p.Gln433Arg
ENST00000484087.5:c.923A>G	ENSP00000419481.1:p.Gln308Arg
ENST00000491747.6:c.1298A>G	ENSP00000420705.2:p.Gln433Arg
ENST00000493795.5:c.4469A>G	ENSP00000418775.1:p.Gln1490Arg
ENST00000493919.5:c.1160A>G	ENSP00000418819.1:p.Gln387Arg
ENST00000586385.5:c.5-10445A>G	ENSP00000465818.1:n.5-10445A>G
ENST00000591534.5:c.83A>G	ENSP00000467329.1:p.Gln28Arg
ENST00000591849.5:c.-98-24206A>G	ENSP00000465347.1:n.-98-24206A>G
NM_007294.3:c.4610A>G , LRG_292t1:c.4610A>G	NP_009225.1:p.Gln1537Arg
NM_007297.3:c.4469A>G	NP_009228.2:p.Gln1490Arg
NM_007298.3:c.1298A>G	NP_009229.2:p.Gln433Arg
NM_007299.3:c.1298A>G	NP_009230.2:p.Gln433Arg
NM_007300.3:c.4673A>G	NP_009231.2:p.Gln1558Arg
NR_027676.1:n.4746A>G
NM_007294.4:c.4610A>G MANE Select	NP_009225.1:p.Gln1537Arg
NM_007297.4:c.4469A>G	NP_009228.2:p.Gln1490Arg
NM_007299.4:c.1298A>G	NP_009230.2:p.Gln433Arg
NM_007300.4:c.4673A>G	NP_009231.2:p.Gln1558Arg
NR_027676.2:n.4787A>G