Canonical Allele Identifier: CA10590623

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868078
• ClinVar RCV Id: RCV001076900 ; RCV001316250
• dbSNP Id: rs2050992362
• MyVariant Identifiers: chr17:g.41199710G>T (hg19) ; chr17:g.43047693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047693G>T , CM000679.2:g.43047693G>T	GRCh38
NC_000017.10:g.41199710G>T , CM000679.1:g.41199710G>T	GRCh37
NC_000017.9:g.38453236G>T	NCBI36
NG_005905.2:g.170291C>A , LRG_292:g.170291C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5414C>A	ENSP00000417241.2:p.Pro1805Gln
ENST00000470026.6:c.5417C>A	ENSP00000419274.2:p.Pro1806Gln
ENST00000473961.6:c.5291C>A	ENSP00000420201.2:p.Pro1764Gln
ENST00000476777.6:c.5411C>A	ENSP00000417554.2:p.Pro1804Gln
ENST00000477152.6:c.5339C>A	ENSP00000419988.2:p.Pro1780Gln
ENST00000478531.6:c.2105C>A	ENSP00000420412.2:p.Pro702Gln
ENST00000489037.2:c.5339C>A	ENSP00000420781.2:p.Pro1780Gln
ENST00000493919.6:c.1967C>A	ENSP00000418819.2:p.Pro656Gln
ENST00000494123.6:c.5417C>A	ENSP00000419103.2:p.Pro1806Gln
ENST00000497488.2:c.4529C>A	ENSP00000418986.2:p.Pro1510Gln
ENST00000618469.2:c.5417C>A	ENSP00000478114.2:p.Pro1806Gln
ENST00000634433.2:c.5294C>A	ENSP00000489431.2:p.Pro1765Gln
ENST00000644379.2:c.5483C>A	ENSP00000496570.2:p.Pro1828Gln
ENST00000644555.2:c.1967C>A	ENSP00000494614.2:p.Pro656Gln
ENST00000652672.2:c.5276C>A	ENSP00000498906.2:p.Pro1759Gln
ENST00000484087.6:c.1979C>A	ENSP00000419481.2:p.Pro660Gln
ENST00000700081.1:n.1300C>A
ENST00000700082.1:n.781C>A
ENST00000357654.9:c.5417C>A MANE Select	ENSP00000350283.3:p.Pro1806Gln
ENST00000471181.7:c.5480C>A	ENSP00000418960.2:p.Pro1827Gln
ENST00000644379.1:c.1804C>A
ENST00000352993.7:c.1991C>A	ENSP00000312236.5:p.Pro664Gln
ENST00000357654.7:c.5417C>A	ENSP00000350283.3:p.Pro1806Gln
ENST00000461221.5:c.*5200C>A	ENSP00000418548.1:n.*5200C>A
ENST00000468300.5:c.2031C>A	ENSP00000417148.1:p.Pro677=
ENST00000471181.6:c.5480C>A	ENSP00000418960.2:p.Pro1827Gln
ENST00000491747.6:c.2105C>A	ENSP00000420705.2:p.Pro702Gln
ENST00000493795.5:c.5276C>A	ENSP00000418775.1:p.Pro1759Gln
ENST00000586385.5:c.347C>A	ENSP00000465818.1:p.Pro116Gln
ENST00000591534.5:c.890C>A	ENSP00000467329.1:p.Pro297Gln
ENST00000591849.5:c.116C>A	ENSP00000465347.1:p.Pro39Gln
NM_007294.3:c.5417C>A , LRG_292t1:c.5417C>A	NP_009225.1:p.Pro1806Gln
NM_007297.3:c.5276C>A	NP_009228.2:p.Pro1759Gln
NM_007298.3:c.2105C>A	NP_009229.2:p.Pro702Gln
NM_007299.3:c.2031C>A	NP_009230.2:p.Pro677=
NM_007300.3:c.5480C>A	NP_009231.2:p.Pro1827Gln
NR_027676.1:n.5553C>A
NM_007294.4:c.5417C>A MANE Select	NP_009225.1:p.Pro1806Gln
NM_007297.4:c.5276C>A	NP_009228.2:p.Pro1759Gln
NM_007299.4:c.2031C>A	NP_009230.2:p.Pro677=
NM_007300.4:c.5480C>A	NP_009231.2:p.Pro1827Gln
NR_027676.2:n.5594C>A