Canonical Allele Identifier: CA10591664

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865429
• ClinVar RCV Id: RCV001072848
• dbSNP Id: rs2052375394
• MyVariant Identifiers: chr17:g.41223003G>A (hg19) ; chr17:g.43070986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070986G>A , CM000679.2:g.43070986G>A	GRCh38
NC_000017.10:g.41223003G>A , CM000679.1:g.41223003G>A	GRCh37
NC_000017.9:g.38476529G>A	NCBI36
NG_005905.2:g.146998C>T , LRG_292:g.146998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4925C>T	ENSP00000417241.2:p.Thr1642Ile
ENST00000470026.6:c.4928C>T	ENSP00000419274.2:p.Thr1643Ile
ENST00000473961.6:c.4802C>T	ENSP00000420201.2:p.Thr1601Ile
ENST00000476777.6:c.4922C>T	ENSP00000417554.2:p.Thr1641Ile
ENST00000477152.6:c.4850C>T	ENSP00000419988.2:p.Thr1617Ile
ENST00000478531.6:c.1616C>T	ENSP00000420412.2:p.Thr539Ile
ENST00000489037.2:c.4850C>T	ENSP00000420781.2:p.Thr1617Ile
ENST00000493919.6:c.1478C>T	ENSP00000418819.2:p.Thr493Ile
ENST00000494123.6:c.4928C>T	ENSP00000419103.2:p.Thr1643Ile
ENST00000497488.2:c.4040C>T	ENSP00000418986.2:p.Thr1347Ile
ENST00000618469.2:c.4928C>T	ENSP00000478114.2:p.Thr1643Ile
ENST00000634433.2:c.4805C>T	ENSP00000489431.2:p.Thr1602Ile
ENST00000644379.2:c.4994C>T	ENSP00000496570.2:p.Thr1665Ile
ENST00000644555.2:c.1478C>T	ENSP00000494614.2:p.Thr493Ile
ENST00000652672.2:c.4787C>T	ENSP00000498906.2:p.Thr1596Ile
ENST00000484087.6:c.1490C>T	ENSP00000419481.2:p.Thr497Ile
ENST00000700182.1:c.1535C>T	ENSP00000514849.1:p.Thr512Ile
ENST00000357654.9:c.4928C>T MANE Select	ENSP00000350283.3:p.Thr1643Ile
ENST00000471181.7:c.4991C>T	ENSP00000418960.2:p.Thr1664Ile
ENST00000644379.1:c.1315C>T
ENST00000352993.7:c.1502C>T	ENSP00000312236.5:p.Thr501Ile
ENST00000357654.7:c.4928C>T	ENSP00000350283.3:p.Thr1643Ile
ENST00000461221.5:c.*4711C>T	ENSP00000418548.1:n.*4711C>T
ENST00000468300.5:c.1616C>T	ENSP00000417148.1:p.Thr539Ile
ENST00000471181.6:c.4991C>T	ENSP00000418960.2:p.Thr1664Ile
ENST00000472490.1:n.81C>T
ENST00000478531.5:c.1616C>T	ENSP00000420412.1:p.Thr539Ile
ENST00000484087.5:c.1241C>T	ENSP00000419481.1:p.Thr414Ile
ENST00000491747.6:c.1616C>T	ENSP00000420705.2:p.Thr539Ile
ENST00000493795.5:c.4787C>T	ENSP00000418775.1:p.Thr1596Ile
ENST00000493919.5:c.1478C>T	ENSP00000418819.1:p.Thr493Ile
ENST00000586385.5:c.5-7035C>T	ENSP00000465818.1:n.5-7035C>T
ENST00000591534.5:c.401C>T	ENSP00000467329.1:p.Thr134Ile
ENST00000591849.5:c.-98-20796C>T	ENSP00000465347.1:n.-98-20796C>T
NM_007294.3:c.4928C>T , LRG_292t1:c.4928C>T	NP_009225.1:p.Thr1643Ile
NM_007297.3:c.4787C>T	NP_009228.2:p.Thr1596Ile
NM_007298.3:c.1616C>T	NP_009229.2:p.Thr539Ile
NM_007299.3:c.1616C>T	NP_009230.2:p.Thr539Ile
NM_007300.3:c.4991C>T	NP_009231.2:p.Thr1664Ile
NR_027676.1:n.5064C>T
NM_007294.4:c.4928C>T MANE Select	NP_009225.1:p.Thr1643Ile
NM_007297.4:c.4787C>T	NP_009228.2:p.Thr1596Ile
NM_007299.4:c.1616C>T	NP_009230.2:p.Thr539Ile
NM_007300.4:c.4991C>T	NP_009231.2:p.Thr1664Ile
NR_027676.2:n.5105C>T