Canonical Allele Identifier: CA500146494

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1742261
• ClinVar RCV Id: RCV002335114
• MyVariant Identifiers: chr17:g.41226361T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074344T>A , CM000679.2:g.43074344T>A	GRCh38
NC_000017.10:g.41226361T>A , CM000679.1:g.41226361T>A	GRCh37
NC_000017.9:g.38479887T>A	NCBI36
NG_005905.2:g.143640A>T , LRG_292:g.143640A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4659A>T	ENSP00000417241.2:p.Pro1553=
ENST00000470026.6:c.4662A>T	ENSP00000419274.2:p.Pro1554=
ENST00000473961.6:c.4536A>T	ENSP00000420201.2:p.Pro1512=
ENST00000476777.6:c.4656A>T	ENSP00000417554.2:p.Pro1552=
ENST00000477152.6:c.4584A>T	ENSP00000419988.2:p.Pro1528=
ENST00000478531.6:c.1350A>T	ENSP00000420412.2:p.Pro450=
ENST00000489037.2:c.4584A>T	ENSP00000420781.2:p.Pro1528=
ENST00000493919.6:c.1212A>T	ENSP00000418819.2:p.Pro404=
ENST00000494123.6:c.4662A>T	ENSP00000419103.2:p.Pro1554=
ENST00000497488.2:c.3774A>T	ENSP00000418986.2:p.Pro1258=
ENST00000618469.2:c.4662A>T	ENSP00000478114.2:p.Pro1554=
ENST00000634433.2:c.4539A>T	ENSP00000489431.2:p.Pro1513=
ENST00000644379.2:c.4728A>T	ENSP00000496570.2:p.Pro1576=
ENST00000644555.2:c.1212A>T	ENSP00000494614.2:p.Pro404=
ENST00000652672.2:c.4521A>T	ENSP00000498906.2:p.Pro1507=
ENST00000484087.6:c.1224A>T	ENSP00000419481.2:p.Pro408=
ENST00000700182.1:c.1269A>T	ENSP00000514849.1:p.Pro423=
ENST00000357654.9:c.4662A>T MANE Select	ENSP00000350283.3:p.Pro1554=
ENST00000471181.7:c.4725A>T	ENSP00000418960.2:p.Pro1575=
ENST00000644379.1:c.1049A>T
ENST00000352993.7:c.1236A>T	ENSP00000312236.5:p.Pro412=
ENST00000357654.7:c.4662A>T	ENSP00000350283.3:p.Pro1554=
ENST00000461221.5:c.*4445A>T	ENSP00000418548.1:n.*4445A>T
ENST00000468300.5:c.1350A>T	ENSP00000417148.1:p.Pro450=
ENST00000471181.6:c.4725A>T	ENSP00000418960.2:p.Pro1575=
ENST00000478531.5:c.1350A>T	ENSP00000420412.1:p.Pro450=
ENST00000484087.5:c.975A>T	ENSP00000419481.1:p.Pro325=
ENST00000491747.6:c.1350A>T	ENSP00000420705.2:p.Pro450=
ENST00000493795.5:c.4521A>T	ENSP00000418775.1:p.Pro1507=
ENST00000493919.5:c.1212A>T	ENSP00000418819.1:p.Pro404=
ENST00000586385.5:c.5-10393A>T	ENSP00000465818.1:n.5-10393A>T
ENST00000591534.5:c.135A>T	ENSP00000467329.1:p.Pro45=
ENST00000591849.5:c.-98-24154A>T	ENSP00000465347.1:n.-98-24154A>T
NM_007294.3:c.4662A>T , LRG_292t1:c.4662A>T	NP_009225.1:p.Pro1554=
NM_007297.3:c.4521A>T	NP_009228.2:p.Pro1507=
NM_007298.3:c.1350A>T	NP_009229.2:p.Pro450=
NM_007299.3:c.1350A>T	NP_009230.2:p.Pro450=
NM_007300.3:c.4725A>T	NP_009231.2:p.Pro1575=
NR_027676.1:n.4798A>T
NM_007294.4:c.4662A>T MANE Select	NP_009225.1:p.Pro1554=
NM_007297.4:c.4521A>T	NP_009228.2:p.Pro1507=
NM_007299.4:c.1350A>T	NP_009230.2:p.Pro450=
NM_007300.4:c.4725A>T	NP_009231.2:p.Pro1575=
NR_027676.2:n.4839A>T