Canonical Allele Identifier: CA052298

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531232
• ClinVar RCV Id: RCV000637380
• dbSNP Id: rs757726297
• ExAC: 17:41228544 T / A
• gnomAD v2: 17-41228544-T-A
• gnomAD v4: 17-43076527-T-A
• MyVariant Identifiers: chr17:g.41228544T>A (hg19) ; chr17:g.43076527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076527T>A , CM000679.2:g.43076527T>A	GRCh38
NC_000017.10:g.41228544T>A , CM000679.1:g.41228544T>A	GRCh37
NC_000017.9:g.38482070T>A	NCBI36
NG_005905.2:g.141457A>T , LRG_292:g.141457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4442A>T	ENSP00000417241.2:p.Asp1481Val
ENST00000470026.6:c.4445A>T	ENSP00000419274.2:p.Asp1482Val
ENST00000473961.6:c.4319A>T	ENSP00000420201.2:p.Asp1440Val
ENST00000476777.6:c.4439A>T	ENSP00000417554.2:p.Asp1480Val
ENST00000477152.6:c.4367A>T	ENSP00000419988.2:p.Asp1456Val
ENST00000478531.6:c.1133A>T	ENSP00000420412.2:p.Asp378Val
ENST00000489037.2:c.4367A>T	ENSP00000420781.2:p.Asp1456Val
ENST00000493919.6:c.995A>T	ENSP00000418819.2:p.Asp332Val
ENST00000494123.6:c.4445A>T	ENSP00000419103.2:p.Asp1482Val
ENST00000497488.2:c.3557A>T	ENSP00000418986.2:p.Asp1186Val
ENST00000618469.2:c.4445A>T	ENSP00000478114.2:p.Asp1482Val
ENST00000634433.2:c.4322A>T	ENSP00000489431.2:p.Asp1441Val
ENST00000644379.2:c.4511A>T	ENSP00000496570.2:p.Asp1504Val
ENST00000644555.2:c.995A>T	ENSP00000494614.2:p.Asp332Val
ENST00000652672.2:c.4304A>T	ENSP00000498906.2:p.Asp1435Val
ENST00000484087.6:c.1007A>T	ENSP00000419481.2:p.Asp336Val
ENST00000700182.1:c.1052A>T	ENSP00000514849.1:p.Asp351Val
ENST00000357654.9:c.4445A>T MANE Select	ENSP00000350283.3:p.Asp1482Val
ENST00000471181.7:c.4508A>T	ENSP00000418960.2:p.Asp1503Val
ENST00000644379.1:c.832A>T
ENST00000352993.7:c.1019A>T	ENSP00000312236.5:p.Asp340Val
ENST00000357654.7:c.4445A>T	ENSP00000350283.3:p.Asp1482Val
ENST00000461221.5:c.*4228A>T	ENSP00000418548.1:n.*4228A>T
ENST00000468300.5:c.1133A>T	ENSP00000417148.1:p.Asp378Val
ENST00000471181.6:c.4508A>T	ENSP00000418960.2:p.Asp1503Val
ENST00000478531.5:c.1133A>T	ENSP00000420412.1:p.Asp378Val
ENST00000484087.5:c.758A>T	ENSP00000419481.1:p.Asp253Val
ENST00000487825.5:c.761A>T	ENSP00000418212.1:p.Asp254Val
ENST00000491747.6:c.1133A>T	ENSP00000420705.2:p.Asp378Val
ENST00000493795.5:c.4304A>T	ENSP00000418775.1:p.Asp1435Val
ENST00000493919.5:c.995A>T	ENSP00000418819.1:p.Asp332Val
ENST00000586385.5:c.5-12576A>T	ENSP00000465818.1:n.5-12576A>T
ENST00000591534.5:c.-43-2006A>T	ENSP00000467329.1:n.-43-2006A>T
ENST00000591849.5:c.-98-26337A>T	ENSP00000465347.1:n.-98-26337A>T
ENST00000621897.1:n.336A>T
NM_007294.3:c.4445A>T , LRG_292t1:c.4445A>T	NP_009225.1:p.Asp1482Val
NM_007297.3:c.4304A>T	NP_009228.2:p.Asp1435Val
NM_007298.3:c.1133A>T	NP_009229.2:p.Asp378Val
NM_007299.3:c.1133A>T	NP_009230.2:p.Asp378Val
NM_007300.3:c.4508A>T	NP_009231.2:p.Asp1503Val
NR_027676.1:n.4581A>T
NM_007294.4:c.4445A>T MANE Select	NP_009225.1:p.Asp1482Val
NM_007297.4:c.4304A>T	NP_009228.2:p.Asp1435Val
NM_007299.4:c.1133A>T	NP_009230.2:p.Asp378Val
NM_007300.4:c.4508A>T	NP_009231.2:p.Asp1503Val
NR_027676.2:n.4622A>T