Canonical Allele Identifier: CA10590175

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045695G>A , CM000679.2:g.43045695G>A	GRCh38
NC_000017.10:g.41197712G>A , CM000679.1:g.41197712G>A	GRCh37
NC_000017.9:g.38451238G>A	NCBI36
NG_005905.2:g.172289C>T , LRG_292:g.172289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5572C>T	ENSP00000417241.2:p.Pro1858Ser
ENST00000470026.6:c.5575C>T	ENSP00000419274.2:p.Pro1859Ser
ENST00000473961.6:c.5449C>T	ENSP00000420201.2:p.Pro1817Ser
ENST00000476777.6:c.5569C>T	ENSP00000417554.2:p.Pro1857Ser
ENST00000477152.6:c.5497C>T	ENSP00000419988.2:p.Pro1833Ser
ENST00000478531.6:c.2263C>T	ENSP00000420412.2:p.Pro755Ser
ENST00000489037.2:c.5497C>T	ENSP00000420781.2:p.Pro1833Ser
ENST00000493919.6:c.2125C>T	ENSP00000418819.2:p.Pro709Ser
ENST00000494123.6:c.5575C>T	ENSP00000419103.2:p.Pro1859Ser
ENST00000497488.2:c.4687C>T	ENSP00000418986.2:p.Pro1563Ser
ENST00000618469.2:c.5575C>T	ENSP00000478114.2:p.Pro1859Ser
ENST00000634433.2:c.5452C>T	ENSP00000489431.2:p.Pro1818Ser
ENST00000644379.2:c.5641C>T	ENSP00000496570.2:p.Pro1881Ser
ENST00000644555.2:c.2125C>T	ENSP00000494614.2:p.Pro709Ser
ENST00000652672.2:c.5434C>T	ENSP00000498906.2:p.Pro1812Ser
ENST00000484087.6:c.2137C>T	ENSP00000419481.2:p.Pro713Ser
ENST00000700081.1:n.1458C>T
ENST00000700082.1:n.939C>T
ENST00000357654.9:c.5575C>T MANE Select	ENSP00000350283.3:p.Pro1859Ser
ENST00000471181.7:c.5638C>T	ENSP00000418960.2:p.Pro1880Ser
ENST00000644379.1:c.1962C>T
ENST00000352993.7:c.2149C>T	ENSP00000312236.5:p.Pro717Ser
ENST00000357654.7:c.5575C>T	ENSP00000350283.3:p.Pro1859Ser
ENST00000461221.5:c.*5358C>T	ENSP00000418548.1:n.*5358C>T
ENST00000468300.5:c.*89C>T	ENSP00000417148.1:n.*89C>T
ENST00000471181.6:c.5638C>T	ENSP00000418960.2:p.Pro1880Ser
ENST00000491747.6:c.2263C>T	ENSP00000420705.2:p.Pro755Ser
ENST00000493795.5:c.5434C>T	ENSP00000418775.1:p.Pro1812Ser
ENST00000586385.5:c.505C>T	ENSP00000465818.1:p.Pro169Ser
ENST00000591534.5:c.1048C>T	ENSP00000467329.1:p.Pro350Ser
ENST00000591849.5:c.274C>T	ENSP00000465347.1:p.Pro92Ser
NM_007294.3:c.5575C>T , LRG_292t1:c.5575C>T	NP_009225.1:p.Pro1859Ser
NM_007297.3:c.5434C>T	NP_009228.2:p.Pro1812Ser
NM_007298.3:c.2263C>T	NP_009229.2:p.Pro755Ser
NM_007299.3:c.*89C>T	NP_009230.2:n.*89C>T
NM_007300.3:c.5638C>T	NP_009231.2:p.Pro1880Ser
NR_027676.1:n.5711C>T
NM_007294.4:c.5575C>T MANE Select	NP_009225.1:p.Pro1859Ser
NM_007297.4:c.5434C>T	NP_009228.2:p.Pro1812Ser
NM_007299.4:c.*89C>T	NP_009230.2:n.*89C>T
NM_007300.4:c.5638C>T	NP_009231.2:p.Pro1880Ser
NR_027676.2:n.5752C>T