Canonical Allele Identifier: CA10591278

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864996
• ClinVar RCV Id: RCV001072313
• dbSNP Id: rs2051914244
• MyVariant Identifiers: chr17:g.41215911T>A (hg19) ; chr17:g.43063894T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063894T>A , CM000679.2:g.43063894T>A	GRCh38
NC_000017.10:g.41215911T>A , CM000679.1:g.41215911T>A	GRCh37
NC_000017.9:g.38469437T>A	NCBI36
NG_005905.2:g.154090A>T , LRG_292:g.154090A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5129A>T	ENSP00000417241.2:p.Lys1710Ile
ENST00000470026.6:c.5132A>T	ENSP00000419274.2:p.Lys1711Ile
ENST00000473961.6:c.5006A>T	ENSP00000420201.2:p.Lys1669Ile
ENST00000476777.6:c.5126A>T	ENSP00000417554.2:p.Lys1709Ile
ENST00000477152.6:c.5054A>T	ENSP00000419988.2:p.Lys1685Ile
ENST00000478531.6:c.1820A>T	ENSP00000420412.2:p.Lys607Ile
ENST00000489037.2:c.5054A>T	ENSP00000420781.2:p.Lys1685Ile
ENST00000493919.6:c.1682A>T	ENSP00000418819.2:p.Lys561Ile
ENST00000494123.6:c.5132A>T	ENSP00000419103.2:p.Lys1711Ile
ENST00000497488.2:c.4244A>T	ENSP00000418986.2:p.Lys1415Ile
ENST00000618469.2:c.5132A>T	ENSP00000478114.2:p.Lys1711Ile
ENST00000634433.2:c.5009A>T	ENSP00000489431.2:p.Lys1670Ile
ENST00000644379.2:c.5198A>T	ENSP00000496570.2:p.Lys1733Ile
ENST00000644555.2:c.1682A>T	ENSP00000494614.2:p.Lys561Ile
ENST00000652672.2:c.4991A>T	ENSP00000498906.2:p.Lys1664Ile
ENST00000484087.6:c.1694A>T	ENSP00000419481.2:p.Lys565Ile
ENST00000357654.9:c.5132A>T MANE Select	ENSP00000350283.3:p.Lys1711Ile
ENST00000471181.7:c.5195A>T	ENSP00000418960.2:p.Lys1732Ile
ENST00000644379.1:c.1519A>T
ENST00000352993.7:c.1706A>T	ENSP00000312236.5:p.Lys569Ile
ENST00000357654.7:c.5132A>T	ENSP00000350283.3:p.Lys1711Ile
ENST00000461221.5:c.*4915A>T	ENSP00000418548.1:n.*4915A>T
ENST00000468300.5:c.1820A>T	ENSP00000417148.1:p.Lys607Ile
ENST00000471181.6:c.5195A>T	ENSP00000418960.2:p.Lys1732Ile
ENST00000478531.5:c.1820A>T	ENSP00000420412.1:p.Lys607Ile
ENST00000484087.5:c.1445A>T	ENSP00000419481.1:p.Lys482Ile
ENST00000491747.6:c.1820A>T	ENSP00000420705.2:p.Lys607Ile
ENST00000493795.5:c.4991A>T	ENSP00000418775.1:p.Lys1664Ile
ENST00000493919.5:c.1682A>T	ENSP00000418819.1:p.Lys561Ile
ENST00000586385.5:c.62A>T	ENSP00000465818.1:p.Lys21Ile
ENST00000591534.5:c.605A>T	ENSP00000467329.1:p.Lys202Ile
ENST00000591849.5:c.-98-13704A>T	ENSP00000465347.1:n.-98-13704A>T
NM_007294.3:c.5132A>T , LRG_292t1:c.5132A>T	NP_009225.1:p.Lys1711Ile
NM_007297.3:c.4991A>T	NP_009228.2:p.Lys1664Ile
NM_007298.3:c.1820A>T	NP_009229.2:p.Lys607Ile
NM_007299.3:c.1820A>T	NP_009230.2:p.Lys607Ile
NM_007300.3:c.5195A>T	NP_009231.2:p.Lys1732Ile
NR_027676.1:n.5268A>T
NM_007294.4:c.5132A>T MANE Select	NP_009225.1:p.Lys1711Ile
NM_007297.4:c.4991A>T	NP_009228.2:p.Lys1664Ile
NM_007299.4:c.1820A>T	NP_009230.2:p.Lys607Ile
NM_007300.4:c.5195A>T	NP_009231.2:p.Lys1732Ile
NR_027676.2:n.5309A>T