Canonical Allele Identifier: CA500231900

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 480981
• ClinVar RCV Id: RCV000562788
• dbSNP Id: rs80357433
• MyVariant Identifiers: chr17:g.41223242G>A (hg19) ; chr17:g.43071225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071225G>A , CM000679.2:g.43071225G>A	GRCh38
NC_000017.10:g.41223242G>A , CM000679.1:g.41223242G>A	GRCh37
NC_000017.9:g.38476768G>A	NCBI36
NG_005905.2:g.146759C>T , LRG_292:g.146759C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4686C>T	ENSP00000417241.2:p.Tyr1562=
ENST00000470026.6:c.4689C>T	ENSP00000419274.2:p.Tyr1563=
ENST00000473961.6:c.4563C>T	ENSP00000420201.2:p.Tyr1521=
ENST00000476777.6:c.4683C>T	ENSP00000417554.2:p.Tyr1561=
ENST00000477152.6:c.4611C>T	ENSP00000419988.2:p.Tyr1537=
ENST00000478531.6:c.1377C>T	ENSP00000420412.2:p.Tyr459=
ENST00000489037.2:c.4611C>T	ENSP00000420781.2:p.Tyr1537=
ENST00000493919.6:c.1239C>T	ENSP00000418819.2:p.Tyr413=
ENST00000494123.6:c.4689C>T	ENSP00000419103.2:p.Tyr1563=
ENST00000497488.2:c.3801C>T	ENSP00000418986.2:p.Tyr1267=
ENST00000618469.2:c.4689C>T	ENSP00000478114.2:p.Tyr1563=
ENST00000634433.2:c.4566C>T	ENSP00000489431.2:p.Tyr1522=
ENST00000644379.2:c.4755C>T	ENSP00000496570.2:p.Tyr1585=
ENST00000644555.2:c.1239C>T	ENSP00000494614.2:p.Tyr413=
ENST00000652672.2:c.4548C>T	ENSP00000498906.2:p.Tyr1516=
ENST00000484087.6:c.1251C>T	ENSP00000419481.2:p.Tyr417=
ENST00000700182.1:c.1296C>T	ENSP00000514849.1:p.Tyr432=
ENST00000357654.9:c.4689C>T MANE Select	ENSP00000350283.3:p.Tyr1563=
ENST00000471181.7:c.4752C>T	ENSP00000418960.2:p.Tyr1584=
ENST00000644379.1:c.1076C>T
ENST00000352993.7:c.1263C>T	ENSP00000312236.5:p.Tyr421=
ENST00000357654.7:c.4689C>T	ENSP00000350283.3:p.Tyr1563=
ENST00000461221.5:c.*4472C>T	ENSP00000418548.1:n.*4472C>T
ENST00000468300.5:c.1377C>T	ENSP00000417148.1:p.Tyr459=
ENST00000471181.6:c.4752C>T	ENSP00000418960.2:p.Tyr1584=
ENST00000478531.5:c.1377C>T	ENSP00000420412.1:p.Tyr459=
ENST00000484087.5:c.1002C>T	ENSP00000419481.1:p.Tyr334=
ENST00000491747.6:c.1377C>T	ENSP00000420705.2:p.Tyr459=
ENST00000493795.5:c.4548C>T	ENSP00000418775.1:p.Tyr1516=
ENST00000493919.5:c.1239C>T	ENSP00000418819.1:p.Tyr413=
ENST00000586385.5:c.5-7274C>T	ENSP00000465818.1:n.5-7274C>T
ENST00000591534.5:c.162C>T	ENSP00000467329.1:p.Tyr54=
ENST00000591849.5:c.-98-21035C>T	ENSP00000465347.1:n.-98-21035C>T
NM_007294.3:c.4689C>T , LRG_292t1:c.4689C>T	NP_009225.1:p.Tyr1563=
NM_007297.3:c.4548C>T	NP_009228.2:p.Tyr1516=
NM_007298.3:c.1377C>T	NP_009229.2:p.Tyr459=
NM_007299.3:c.1377C>T	NP_009230.2:p.Tyr459=
NM_007300.3:c.4752C>T	NP_009231.2:p.Tyr1584=
NR_027676.1:n.4825C>T
NM_007294.4:c.4689C>T MANE Select	NP_009225.1:p.Tyr1563=
NM_007297.4:c.4548C>T	NP_009228.2:p.Tyr1516=
NM_007299.4:c.1377C>T	NP_009230.2:p.Tyr459=
NM_007300.4:c.4752C>T	NP_009231.2:p.Tyr1584=
NR_027676.2:n.4866C>T