Canonical Allele Identifier: CA002935

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55244
• ClinVar RCV Id: RCV000112368 ; RCV000132132 ; RCV000479934 ; RCV000780989 ; RCV001434885
• dbSNP Id: rs80356917
• MyVariant Identifiers: chr17:g.41226392G>A (hg19) ; chr17:g.43074375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074375G>A , CM000679.2:g.43074375G>A	GRCh38
NC_000017.10:g.41226392G>A , CM000679.1:g.41226392G>A	GRCh37
NC_000017.9:g.38479918G>A	NCBI36
NG_005905.2:g.143609C>T , LRG_292:g.143609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4628C>T	ENSP00000417241.2:p.Pro1543Leu
ENST00000470026.6:c.4631C>T	ENSP00000419274.2:p.Pro1544Leu
ENST00000473961.6:c.4505C>T	ENSP00000420201.2:p.Pro1502Leu
ENST00000476777.6:c.4625C>T	ENSP00000417554.2:p.Pro1542Leu
ENST00000477152.6:c.4553C>T	ENSP00000419988.2:p.Pro1518Leu
ENST00000478531.6:c.1319C>T	ENSP00000420412.2:p.Pro440Leu
ENST00000489037.2:c.4553C>T	ENSP00000420781.2:p.Pro1518Leu
ENST00000493919.6:c.1181C>T	ENSP00000418819.2:p.Pro394Leu
ENST00000494123.6:c.4631C>T	ENSP00000419103.2:p.Pro1544Leu
ENST00000497488.2:c.3743C>T	ENSP00000418986.2:p.Pro1248Leu
ENST00000618469.2:c.4631C>T	ENSP00000478114.2:p.Pro1544Leu
ENST00000634433.2:c.4508C>T	ENSP00000489431.2:p.Pro1503Leu
ENST00000644379.2:c.4697C>T	ENSP00000496570.2:p.Pro1566Leu
ENST00000644555.2:c.1181C>T	ENSP00000494614.2:p.Pro394Leu
ENST00000652672.2:c.4490C>T	ENSP00000498906.2:p.Pro1497Leu
ENST00000484087.6:c.1193C>T	ENSP00000419481.2:p.Pro398Leu
ENST00000700182.1:c.1238C>T	ENSP00000514849.1:p.Pro413Leu
ENST00000357654.9:c.4631C>T MANE Select	ENSP00000350283.3:p.Pro1544Leu
ENST00000471181.7:c.4694C>T	ENSP00000418960.2:p.Pro1565Leu
ENST00000644379.1:c.1018C>T
ENST00000352993.7:c.1205C>T	ENSP00000312236.5:p.Pro402Leu
ENST00000357654.7:c.4631C>T	ENSP00000350283.3:p.Pro1544Leu
ENST00000461221.5:c.*4414C>T	ENSP00000418548.1:n.*4414C>T
ENST00000468300.5:c.1319C>T	ENSP00000417148.1:p.Pro440Leu
ENST00000471181.6:c.4694C>T	ENSP00000418960.2:p.Pro1565Leu
ENST00000478531.5:c.1319C>T	ENSP00000420412.1:p.Pro440Leu
ENST00000484087.5:c.944C>T	ENSP00000419481.1:p.Pro315Leu
ENST00000491747.6:c.1319C>T	ENSP00000420705.2:p.Pro440Leu
ENST00000493795.5:c.4490C>T	ENSP00000418775.1:p.Pro1497Leu
ENST00000493919.5:c.1181C>T	ENSP00000418819.1:p.Pro394Leu
ENST00000586385.5:c.5-10424C>T	ENSP00000465818.1:n.5-10424C>T
ENST00000591534.5:c.104C>T	ENSP00000467329.1:p.Pro35Leu
ENST00000591849.5:c.-98-24185C>T	ENSP00000465347.1:n.-98-24185C>T
NM_007294.3:c.4631C>T , LRG_292t1:c.4631C>T	NP_009225.1:p.Pro1544Leu
NM_007297.3:c.4490C>T	NP_009228.2:p.Pro1497Leu
NM_007298.3:c.1319C>T	NP_009229.2:p.Pro440Leu
NM_007299.3:c.1319C>T	NP_009230.2:p.Pro440Leu
NM_007300.3:c.4694C>T	NP_009231.2:p.Pro1565Leu
NR_027676.1:n.4767C>T
NM_007294.4:c.4631C>T MANE Select	NP_009225.1:p.Pro1544Leu
NM_007297.4:c.4490C>T	NP_009228.2:p.Pro1497Leu
NM_007299.4:c.1319C>T	NP_009230.2:p.Pro440Leu
NM_007300.4:c.4694C>T	NP_009231.2:p.Pro1565Leu
NR_027676.2:n.4808C>T