Canonical Allele Identifier: CA10590179

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41197714A>C (hg19) ; chr17:g.43045697A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045697A>C , CM000679.2:g.43045697A>C	GRCh38
NC_000017.10:g.41197714A>C , CM000679.1:g.41197714A>C	GRCh37
NC_000017.9:g.38451240A>C	NCBI36
NG_005905.2:g.172287T>G , LRG_292:g.172287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5570T>G	ENSP00000417241.2:p.Ile1857Ser
ENST00000470026.6:c.5573T>G	ENSP00000419274.2:p.Ile1858Ser
ENST00000473961.6:c.5447T>G	ENSP00000420201.2:p.Ile1816Ser
ENST00000476777.6:c.5567T>G	ENSP00000417554.2:p.Ile1856Ser
ENST00000477152.6:c.5495T>G	ENSP00000419988.2:p.Ile1832Ser
ENST00000478531.6:c.2261T>G	ENSP00000420412.2:p.Ile754Ser
ENST00000489037.2:c.5495T>G	ENSP00000420781.2:p.Ile1832Ser
ENST00000493919.6:c.2123T>G	ENSP00000418819.2:p.Ile708Ser
ENST00000494123.6:c.5573T>G	ENSP00000419103.2:p.Ile1858Ser
ENST00000497488.2:c.4685T>G	ENSP00000418986.2:p.Ile1562Ser
ENST00000618469.2:c.5573T>G	ENSP00000478114.2:p.Ile1858Ser
ENST00000634433.2:c.5450T>G	ENSP00000489431.2:p.Ile1817Ser
ENST00000644379.2:c.5639T>G	ENSP00000496570.2:p.Ile1880Ser
ENST00000644555.2:c.2123T>G	ENSP00000494614.2:p.Ile708Ser
ENST00000652672.2:c.5432T>G	ENSP00000498906.2:p.Ile1811Ser
ENST00000484087.6:c.2135T>G	ENSP00000419481.2:p.Ile712Ser
ENST00000700081.1:n.1456T>G
ENST00000700082.1:n.937T>G
ENST00000357654.9:c.5573T>G MANE Select	ENSP00000350283.3:p.Ile1858Ser
ENST00000471181.7:c.5636T>G	ENSP00000418960.2:p.Ile1879Ser
ENST00000644379.1:c.1960T>G
ENST00000352993.7:c.2147T>G	ENSP00000312236.5:p.Ile716Ser
ENST00000357654.7:c.5573T>G	ENSP00000350283.3:p.Ile1858Ser
ENST00000461221.5:c.*5356T>G	ENSP00000418548.1:n.*5356T>G
ENST00000468300.5:c.*87T>G	ENSP00000417148.1:n.*87T>G
ENST00000471181.6:c.5636T>G	ENSP00000418960.2:p.Ile1879Ser
ENST00000491747.6:c.2261T>G	ENSP00000420705.2:p.Ile754Ser
ENST00000493795.5:c.5432T>G	ENSP00000418775.1:p.Ile1811Ser
ENST00000586385.5:c.503T>G	ENSP00000465818.1:p.Ile168Ser
ENST00000591534.5:c.1046T>G	ENSP00000467329.1:p.Ile349Ser
ENST00000591849.5:c.272T>G	ENSP00000465347.1:p.Ile91Ser
NM_007294.3:c.5573T>G , LRG_292t1:c.5573T>G	NP_009225.1:p.Ile1858Ser
NM_007297.3:c.5432T>G	NP_009228.2:p.Ile1811Ser
NM_007298.3:c.2261T>G	NP_009229.2:p.Ile754Ser
NM_007299.3:c.*87T>G	NP_009230.2:n.*87T>G
NM_007300.3:c.5636T>G	NP_009231.2:p.Ile1879Ser
NR_027676.1:n.5709T>G
NM_007294.4:c.5573T>G MANE Select	NP_009225.1:p.Ile1858Ser
NM_007297.4:c.5432T>G	NP_009228.2:p.Ile1811Ser
NM_007299.4:c.*87T>G	NP_009230.2:n.*87T>G
NM_007300.4:c.5636T>G	NP_009231.2:p.Ile1879Ser
NR_027676.2:n.5750T>G