Canonical Allele Identifier: CA10590143

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41197697A>C (hg19) ; chr17:g.43045680A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045680A>C , CM000679.2:g.43045680A>C	GRCh38
NC_000017.10:g.41197697A>C , CM000679.1:g.41197697A>C	GRCh37
NC_000017.9:g.38451223A>C	NCBI36
NG_005905.2:g.172304T>G , LRG_292:g.172304T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5587T>G	ENSP00000417241.2:p.Ter1863Gly
ENST00000470026.6:c.5590T>G	ENSP00000419274.2:p.Ter1864Gly
ENST00000473961.6:c.5464T>G	ENSP00000420201.2:p.Ter1822Gly
ENST00000476777.6:c.5584T>G	ENSP00000417554.2:p.Ter1862Gly
ENST00000477152.6:c.5512T>G	ENSP00000419988.2:p.Ter1838Gly
ENST00000478531.6:c.2278T>G	ENSP00000420412.2:p.Ter760Gly
ENST00000489037.2:c.5512T>G	ENSP00000420781.2:p.Ter1838Gly
ENST00000493919.6:c.2140T>G	ENSP00000418819.2:p.Ter714Gly
ENST00000494123.6:c.5590T>G	ENSP00000419103.2:p.Ter1864Gly
ENST00000497488.2:c.4702T>G	ENSP00000418986.2:p.Ter1568Gly
ENST00000618469.2:c.5590T>G	ENSP00000478114.2:p.Ter1864Gly
ENST00000634433.2:c.5467T>G	ENSP00000489431.2:p.Ter1823Gly
ENST00000644379.2:c.5656T>G	ENSP00000496570.2:p.Ter1886Gly
ENST00000644555.2:c.2140T>G	ENSP00000494614.2:p.Ter714Gly
ENST00000652672.2:c.5449T>G	ENSP00000498906.2:p.Ter1817Gly
ENST00000484087.6:c.2152T>G	ENSP00000419481.2:p.Ter718Gly
ENST00000700081.1:n.1473T>G
ENST00000700082.1:n.954T>G
ENST00000357654.9:c.5590T>G MANE Select	ENSP00000350283.3:p.Ter1864Gly
ENST00000471181.7:c.5653T>G	ENSP00000418960.2:p.Ter1885Gly
ENST00000644379.1:c.1977T>G
ENST00000352993.7:c.2164T>G	ENSP00000312236.5:p.Ter722Gly
ENST00000357654.7:c.5590T>G	ENSP00000350283.3:p.Ter1864Gly
ENST00000461221.5:c.*5373T>G	ENSP00000418548.1:n.*5373T>G
ENST00000468300.5:c.*104T>G	ENSP00000417148.1:n.*104T>G
ENST00000471181.6:c.5653T>G	ENSP00000418960.2:p.Ter1885Gly
ENST00000491747.6:c.2278T>G	ENSP00000420705.2:p.Ter760Gly
ENST00000493795.5:c.5449T>G	ENSP00000418775.1:p.Ter1817Gly
ENST00000586385.5:c.520T>G	ENSP00000465818.1:p.Ter174Gly
ENST00000591534.5:c.1063T>G	ENSP00000467329.1:p.Ter355Gly
ENST00000591849.5:c.289T>G	ENSP00000465347.1:p.Ter97Gly
NM_007294.3:c.5590T>G , LRG_292t1:c.5590T>G	NP_009225.1:p.Ter1864Gly
NM_007297.3:c.5449T>G	NP_009228.2:p.Ter1817Gly
NM_007298.3:c.2278T>G	NP_009229.2:p.Ter760Gly
NM_007299.3:c.*104T>G	NP_009230.2:n.*104T>G
NM_007300.3:c.5653T>G	NP_009231.2:p.Ter1885Gly
NR_027676.1:n.5726T>G
NM_007294.4:c.5590T>G MANE Select	NP_009225.1:p.Ter1864Gly
NM_007297.4:c.5449T>G	NP_009228.2:p.Ter1817Gly
NM_007299.4:c.*104T>G	NP_009230.2:n.*104T>G
NM_007300.4:c.5653T>G	NP_009231.2:p.Ter1885Gly
NR_027676.2:n.5767T>G