Canonical Allele Identifier: CA10592699

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 481446
• ClinVar RCV Id: RCV000570905 ; RCV001049727
• dbSNP Id: rs1555582616
• MyVariant Identifiers: chr17:g.41228569C>T (hg19) ; chr17:g.43076552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076552C>T , CM000679.2:g.43076552C>T	GRCh38
NC_000017.10:g.41228569C>T , CM000679.1:g.41228569C>T	GRCh37
NC_000017.9:g.38482095C>T	NCBI36
NG_005905.2:g.141432G>A , LRG_292:g.141432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4417G>A	ENSP00000417241.2:p.Ala1473Thr
ENST00000470026.6:c.4420G>A	ENSP00000419274.2:p.Ala1474Thr
ENST00000473961.6:c.4294G>A	ENSP00000420201.2:p.Ala1432Thr
ENST00000476777.6:c.4414G>A	ENSP00000417554.2:p.Ala1472Thr
ENST00000477152.6:c.4342G>A	ENSP00000419988.2:p.Ala1448Thr
ENST00000478531.6:c.1108G>A	ENSP00000420412.2:p.Ala370Thr
ENST00000489037.2:c.4342G>A	ENSP00000420781.2:p.Ala1448Thr
ENST00000493919.6:c.970G>A	ENSP00000418819.2:p.Ala324Thr
ENST00000494123.6:c.4420G>A	ENSP00000419103.2:p.Ala1474Thr
ENST00000497488.2:c.3532G>A	ENSP00000418986.2:p.Ala1178Thr
ENST00000618469.2:c.4420G>A	ENSP00000478114.2:p.Ala1474Thr
ENST00000634433.2:c.4297G>A	ENSP00000489431.2:p.Ala1433Thr
ENST00000644379.2:c.4486G>A	ENSP00000496570.2:p.Ala1496Thr
ENST00000644555.2:c.970G>A	ENSP00000494614.2:p.Ala324Thr
ENST00000652672.2:c.4279G>A	ENSP00000498906.2:p.Ala1427Thr
ENST00000484087.6:c.982G>A	ENSP00000419481.2:p.Ala328Thr
ENST00000700182.1:c.1027G>A	ENSP00000514849.1:p.Ala343Thr
ENST00000357654.9:c.4420G>A MANE Select	ENSP00000350283.3:p.Ala1474Thr
ENST00000471181.7:c.4483G>A	ENSP00000418960.2:p.Ala1495Thr
ENST00000644379.1:c.807G>A
ENST00000352993.7:c.994G>A	ENSP00000312236.5:p.Ala332Thr
ENST00000357654.7:c.4420G>A	ENSP00000350283.3:p.Ala1474Thr
ENST00000461221.5:c.*4203G>A	ENSP00000418548.1:n.*4203G>A
ENST00000461574.1:c.711G>A
ENST00000468300.5:c.1108G>A	ENSP00000417148.1:p.Ala370Thr
ENST00000471181.6:c.4483G>A	ENSP00000418960.2:p.Ala1495Thr
ENST00000478531.5:c.1108G>A	ENSP00000420412.1:p.Ala370Thr
ENST00000484087.5:c.733G>A	ENSP00000419481.1:p.Ala245Thr
ENST00000487825.5:c.736G>A	ENSP00000418212.1:p.Ala246Thr
ENST00000491747.6:c.1108G>A	ENSP00000420705.2:p.Ala370Thr
ENST00000493795.5:c.4279G>A	ENSP00000418775.1:p.Ala1427Thr
ENST00000493919.5:c.970G>A	ENSP00000418819.1:p.Ala324Thr
ENST00000586385.5:c.5-12601G>A	ENSP00000465818.1:n.5-12601G>A
ENST00000591534.5:c.-43-2031G>A	ENSP00000467329.1:n.-43-2031G>A
ENST00000591849.5:c.-98-26362G>A	ENSP00000465347.1:n.-98-26362G>A
ENST00000621897.1:n.311G>A
NM_007294.3:c.4420G>A , LRG_292t1:c.4420G>A	NP_009225.1:p.Ala1474Thr
NM_007297.3:c.4279G>A	NP_009228.2:p.Ala1427Thr
NM_007298.3:c.1108G>A	NP_009229.2:p.Ala370Thr
NM_007299.3:c.1108G>A	NP_009230.2:p.Ala370Thr
NM_007300.3:c.4483G>A	NP_009231.2:p.Ala1495Thr
NR_027676.1:n.4556G>A
NM_007294.4:c.4420G>A MANE Select	NP_009225.1:p.Ala1474Thr
NM_007297.4:c.4279G>A	NP_009228.2:p.Ala1427Thr
NM_007299.4:c.1108G>A	NP_009230.2:p.Ala370Thr
NM_007300.4:c.4483G>A	NP_009231.2:p.Ala1495Thr
NR_027676.2:n.4597G>A