Canonical Allele Identifier: CA10593042

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154145792
• MyVariant Identifiers: chr17:g.41234438T>A (hg19) ; chr17:g.43082421T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082421T>A , CM000679.2:g.43082421T>A	GRCh38
NC_000017.10:g.41234438T>A , CM000679.1:g.41234438T>A	GRCh37
NC_000017.9:g.38487964T>A	NCBI36
NG_005905.2:g.135563A>T , LRG_292:g.135563A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4340A>T	ENSP00000417241.2:p.Gln1447Leu
ENST00000470026.6:c.4340A>T	ENSP00000419274.2:p.Gln1447Leu
ENST00000473961.6:c.4214A>T	ENSP00000420201.2:p.Gln1405Leu
ENST00000476777.6:c.4334A>T	ENSP00000417554.2:p.Gln1445Leu
ENST00000477152.6:c.4262A>T	ENSP00000419988.2:p.Gln1421Leu
ENST00000478531.6:c.1028A>T	ENSP00000420412.2:p.Gln343Leu
ENST00000489037.2:c.4262A>T	ENSP00000420781.2:p.Gln1421Leu
ENST00000493919.6:c.890A>T	ENSP00000418819.2:p.Gln297Leu
ENST00000494123.6:c.4340A>T	ENSP00000419103.2:p.Gln1447Leu
ENST00000497488.2:c.3452A>T	ENSP00000418986.2:p.Gln1151Leu
ENST00000618469.2:c.4340A>T	ENSP00000478114.2:p.Gln1447Leu
ENST00000634433.2:c.4217A>T	ENSP00000489431.2:p.Gln1406Leu
ENST00000644379.2:c.4340A>T	ENSP00000496570.2:p.Gln1447Leu
ENST00000644555.2:c.890A>T	ENSP00000494614.2:p.Gln297Leu
ENST00000652672.2:c.4199A>T	ENSP00000498906.2:p.Gln1400Leu
ENST00000484087.6:c.905A>T	ENSP00000419481.2:p.Gln302Leu
ENST00000700182.1:c.950A>T	ENSP00000514849.1:p.Gln317Leu
ENST00000357654.9:c.4340A>T MANE Select	ENSP00000350283.3:p.Gln1447Leu
ENST00000471181.7:c.4340A>T	ENSP00000418960.2:p.Gln1447Leu
ENST00000644379.1:c.661A>T
ENST00000352993.7:c.914A>T	ENSP00000312236.5:p.Gln305Leu
ENST00000357654.7:c.4340A>T	ENSP00000350283.3:p.Gln1447Leu
ENST00000461221.5:c.*4123A>T	ENSP00000418548.1:n.*4123A>T
ENST00000461574.1:c.634A>T
ENST00000468300.5:c.1031A>T	ENSP00000417148.1:p.Gln344Leu
ENST00000471181.6:c.4340A>T	ENSP00000418960.2:p.Gln1447Leu
ENST00000478531.5:c.1028A>T	ENSP00000420412.1:p.Gln343Leu
ENST00000484087.5:c.653A>T	ENSP00000419481.1:p.Gln218Leu
ENST00000487825.5:c.656A>T	ENSP00000418212.1:p.Gln219Leu
ENST00000491747.6:c.1031A>T	ENSP00000420705.2:p.Gln344Leu
ENST00000493795.5:c.4199A>T	ENSP00000418775.1:p.Gln1400Leu
ENST00000493919.5:c.890A>T	ENSP00000418819.1:p.Gln297Leu
ENST00000586385.5:c.5-18470A>T	ENSP00000465818.1:n.5-18470A>T
ENST00000591534.5:c.-43-7900A>T	ENSP00000467329.1:n.-43-7900A>T
ENST00000591849.5:c.-98-32231A>T	ENSP00000465347.1:n.-98-32231A>T
ENST00000621897.1:n.234A>T
NM_007294.3:c.4340A>T , LRG_292t1:c.4340A>T	NP_009225.1:p.Gln1447Leu
NM_007297.3:c.4199A>T	NP_009228.2:p.Gln1400Leu
NM_007298.3:c.1031A>T	NP_009229.2:p.Gln344Leu
NM_007299.3:c.1031A>T	NP_009230.2:p.Gln344Leu
NM_007300.3:c.4340A>T	NP_009231.2:p.Gln1447Leu
NR_027676.1:n.4476A>T
NM_007294.4:c.4340A>T MANE Select	NP_009225.1:p.Gln1447Leu
NM_007297.4:c.4199A>T	NP_009228.2:p.Gln1400Leu
NM_007299.4:c.1031A>T	NP_009230.2:p.Gln344Leu
NM_007300.4:c.4340A>T	NP_009231.2:p.Gln1447Leu
NR_027676.2:n.4517A>T