Canonical Allele Identifier: CA003111

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55333
• ClinVar RCV Id: RCV000112436 ; RCV000223580 ; RCV003162417 ; RCV000709466 ; RCV001528321
• dbSNP Id: rs80357390
• MyVariant Identifiers: chr17:g.41222967G>A (hg19) ; chr17:g.43070950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070950G>A , CM000679.2:g.43070950G>A	GRCh38
NC_000017.10:g.41222967G>A , CM000679.1:g.41222967G>A	GRCh37
NC_000017.9:g.38476493G>A	NCBI36
NG_005905.2:g.147034C>T , LRG_292:g.147034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4961C>T	ENSP00000417241.2:p.Ser1654Phe
ENST00000470026.6:c.4964C>T	ENSP00000419274.2:p.Ser1655Phe
ENST00000473961.6:c.4838C>T	ENSP00000420201.2:p.Ser1613Phe
ENST00000476777.6:c.4958C>T	ENSP00000417554.2:p.Ser1653Phe
ENST00000477152.6:c.4886C>T	ENSP00000419988.2:p.Ser1629Phe
ENST00000478531.6:c.1652C>T	ENSP00000420412.2:p.Ser551Phe
ENST00000489037.2:c.4886C>T	ENSP00000420781.2:p.Ser1629Phe
ENST00000493919.6:c.1514C>T	ENSP00000418819.2:p.Ser505Phe
ENST00000494123.6:c.4964C>T	ENSP00000419103.2:p.Ser1655Phe
ENST00000497488.2:c.4076C>T	ENSP00000418986.2:p.Ser1359Phe
ENST00000618469.2:c.4964C>T	ENSP00000478114.2:p.Ser1655Phe
ENST00000634433.2:c.4841C>T	ENSP00000489431.2:p.Ser1614Phe
ENST00000644379.2:c.5030C>T	ENSP00000496570.2:p.Ser1677Phe
ENST00000644555.2:c.1514C>T	ENSP00000494614.2:p.Ser505Phe
ENST00000652672.2:c.4823C>T	ENSP00000498906.2:p.Ser1608Phe
ENST00000484087.6:c.1526C>T	ENSP00000419481.2:p.Ser509Phe
ENST00000700182.1:c.1571C>T	ENSP00000514849.1:p.Ser524Phe
ENST00000357654.9:c.4964C>T MANE Select	ENSP00000350283.3:p.Ser1655Phe
ENST00000471181.7:c.5027C>T	ENSP00000418960.2:p.Ser1676Phe
ENST00000644379.1:c.1351C>T
ENST00000352993.7:c.1538C>T	ENSP00000312236.5:p.Ser513Phe
ENST00000357654.7:c.4964C>T	ENSP00000350283.3:p.Ser1655Phe
ENST00000461221.5:c.*4747C>T	ENSP00000418548.1:n.*4747C>T
ENST00000468300.5:c.1652C>T	ENSP00000417148.1:p.Ser551Phe
ENST00000471181.6:c.5027C>T	ENSP00000418960.2:p.Ser1676Phe
ENST00000472490.1:n.117C>T
ENST00000478531.5:c.1652C>T	ENSP00000420412.1:p.Ser551Phe
ENST00000484087.5:c.1277C>T	ENSP00000419481.1:p.Ser426Phe
ENST00000491747.6:c.1652C>T	ENSP00000420705.2:p.Ser551Phe
ENST00000493795.5:c.4823C>T	ENSP00000418775.1:p.Ser1608Phe
ENST00000493919.5:c.1514C>T	ENSP00000418819.1:p.Ser505Phe
ENST00000586385.5:c.5-6999C>T	ENSP00000465818.1:n.5-6999C>T
ENST00000591534.5:c.437C>T	ENSP00000467329.1:p.Ser146Phe
ENST00000591849.5:c.-98-20760C>T	ENSP00000465347.1:n.-98-20760C>T
NM_007294.3:c.4964C>T , LRG_292t1:c.4964C>T	NP_009225.1:p.Ser1655Phe
NM_007297.3:c.4823C>T	NP_009228.2:p.Ser1608Phe
NM_007298.3:c.1652C>T	NP_009229.2:p.Ser551Phe
NM_007299.3:c.1652C>T	NP_009230.2:p.Ser551Phe
NM_007300.3:c.5027C>T	NP_009231.2:p.Ser1676Phe
NR_027676.1:n.5100C>T
NM_007294.4:c.4964C>T MANE Select	NP_009225.1:p.Ser1655Phe
NM_007297.4:c.4823C>T	NP_009228.2:p.Ser1608Phe
NM_007299.4:c.1652C>T	NP_009230.2:p.Ser551Phe
NM_007300.4:c.5027C>T	NP_009231.2:p.Ser1676Phe
NR_027676.2:n.5141C>T