Canonical Allele Identifier: CA060200

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 824851
• ClinVar RCV Id: RCV001022401 ; RCV001407529
• dbSNP Id: rs80356997
• ExAC: 17:41228600 G / A
• gnomAD v2: 17-41228600-G-A
• gnomAD v3: 17-43076583-G-A
• gnomAD v4: 17-43076583-G-A
• MyVariant Identifiers: chr17:g.41228600G>A (hg19) ; chr17:g.43076583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076583G>A , CM000679.2:g.43076583G>A	GRCh38
NC_000017.10:g.41228600G>A , CM000679.1:g.41228600G>A	GRCh37
NC_000017.9:g.38482126G>A	NCBI36
NG_005905.2:g.141401C>T , LRG_292:g.141401C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4386C>T	ENSP00000417241.2:p.Tyr1462=
ENST00000470026.6:c.4389C>T	ENSP00000419274.2:p.Tyr1463=
ENST00000473961.6:c.4263C>T	ENSP00000420201.2:p.Tyr1421=
ENST00000476777.6:c.4383C>T	ENSP00000417554.2:p.Tyr1461=
ENST00000477152.6:c.4311C>T	ENSP00000419988.2:p.Tyr1437=
ENST00000478531.6:c.1077C>T	ENSP00000420412.2:p.Tyr359=
ENST00000489037.2:c.4311C>T	ENSP00000420781.2:p.Tyr1437=
ENST00000493919.6:c.939C>T	ENSP00000418819.2:p.Tyr313=
ENST00000494123.6:c.4389C>T	ENSP00000419103.2:p.Tyr1463=
ENST00000497488.2:c.3501C>T	ENSP00000418986.2:p.Tyr1167=
ENST00000618469.2:c.4389C>T	ENSP00000478114.2:p.Tyr1463=
ENST00000634433.2:c.4266C>T	ENSP00000489431.2:p.Tyr1422=
ENST00000644379.2:c.4455C>T	ENSP00000496570.2:p.Tyr1485=
ENST00000644555.2:c.939C>T	ENSP00000494614.2:p.Tyr313=
ENST00000652672.2:c.4248C>T	ENSP00000498906.2:p.Tyr1416=
ENST00000484087.6:c.951C>T	ENSP00000419481.2:p.Tyr317=
ENST00000700182.1:c.996C>T	ENSP00000514849.1:p.Tyr332=
ENST00000357654.9:c.4389C>T MANE Select	ENSP00000350283.3:p.Tyr1463=
ENST00000471181.7:c.4452C>T	ENSP00000418960.2:p.Tyr1484=
ENST00000644379.1:c.776C>T
ENST00000352993.7:c.963C>T	ENSP00000312236.5:p.Tyr321=
ENST00000357654.7:c.4389C>T	ENSP00000350283.3:p.Tyr1463=
ENST00000461221.5:c.*4172C>T	ENSP00000418548.1:n.*4172C>T
ENST00000461574.1:c.680C>T
ENST00000468300.5:c.1077C>T	ENSP00000417148.1:p.Tyr359=
ENST00000471181.6:c.4452C>T	ENSP00000418960.2:p.Tyr1484=
ENST00000478531.5:c.1077C>T	ENSP00000420412.1:p.Tyr359=
ENST00000484087.5:c.702C>T	ENSP00000419481.1:p.Tyr234=
ENST00000487825.5:c.705C>T	ENSP00000418212.1:p.Tyr235=
ENST00000491747.6:c.1077C>T	ENSP00000420705.2:p.Tyr359=
ENST00000493795.5:c.4248C>T	ENSP00000418775.1:p.Tyr1416=
ENST00000493919.5:c.939C>T	ENSP00000418819.1:p.Tyr313=
ENST00000586385.5:c.5-12632C>T	ENSP00000465818.1:n.5-12632C>T
ENST00000591534.5:c.-43-2062C>T	ENSP00000467329.1:n.-43-2062C>T
ENST00000591849.5:c.-98-26393C>T	ENSP00000465347.1:n.-98-26393C>T
ENST00000621897.1:n.280C>T
NM_007294.3:c.4389C>T , LRG_292t1:c.4389C>T	NP_009225.1:p.Tyr1463=
NM_007297.3:c.4248C>T	NP_009228.2:p.Tyr1416=
NM_007298.3:c.1077C>T	NP_009229.2:p.Tyr359=
NM_007299.3:c.1077C>T	NP_009230.2:p.Tyr359=
NM_007300.3:c.4452C>T	NP_009231.2:p.Tyr1484=
NR_027676.1:n.4525C>T
NM_007294.4:c.4389C>T MANE Select	NP_009225.1:p.Tyr1463=
NM_007297.4:c.4248C>T	NP_009228.2:p.Tyr1416=
NM_007299.4:c.1077C>T	NP_009230.2:p.Tyr359=
NM_007300.4:c.4452C>T	NP_009231.2:p.Tyr1484=
NR_027676.2:n.4566C>T