Canonical Allele Identifier: CA10590679

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049129G>A , CM000679.2:g.43049129G>A	GRCh38
NC_000017.10:g.41201146G>A , CM000679.1:g.41201146G>A	GRCh37
NC_000017.9:g.38454672G>A	NCBI36
NG_005905.2:g.168855C>T , LRG_292:g.168855C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5398C>T MANE Select	NP_009225.1:p.Leu1800Phe
ENST00000357654.9:c.5398C>T MANE Select	ENSP00000350283.3:p.Leu1800Phe
NM_007294.3:c.5398C>T , LRG_292t1:c.5398C>T	NP_009225.1:p.Leu1800Phe
NM_007297.3:c.5257C>T	NP_009228.2:p.Leu1753Phe
NM_007297.4:c.5257C>T	NP_009228.2:p.Leu1753Phe
NM_007298.3:c.2086C>T	NP_009229.2:p.Leu696Phe
NM_007299.3:c.2021-1426C>T	NP_009230.2:n.2021-1426C>T
NM_007299.4:c.2021-1426C>T	NP_009230.2:n.2021-1426C>T
NM_007300.3:c.5461C>T	NP_009231.2:p.Leu1821Phe
NM_007300.4:c.5461C>T	NP_009231.2:p.Leu1821Phe
NR_027676.1:n.5534C>T
NR_027676.2:n.5575C>T
ENST00000352993.7:c.1972C>T	ENSP00000312236.5:p.Leu658Phe
ENST00000357654.7:c.5398C>T	ENSP00000350283.3:p.Leu1800Phe
ENST00000461221.5:c.*5181C>T	ENSP00000418548.1:n.*5181C>T
ENST00000461574.2:c.5395C>T	ENSP00000417241.2:p.Leu1799Phe
ENST00000468300.5:c.2021-1426C>T	ENSP00000417148.1:n.2021-1426C>T
ENST00000470026.6:c.5398C>T	ENSP00000419274.2:p.Leu1800Phe
ENST00000471181.6:c.5461C>T	ENSP00000418960.2:p.Leu1821Phe
ENST00000471181.7:c.5461C>T	ENSP00000418960.2:p.Leu1821Phe
ENST00000473961.6:c.5272C>T	ENSP00000420201.2:p.Leu1758Phe
ENST00000476777.6:c.5392C>T	ENSP00000417554.2:p.Leu1798Phe
ENST00000477152.6:c.5320C>T	ENSP00000419988.2:p.Leu1774Phe
ENST00000478531.6:c.2086C>T	ENSP00000420412.2:p.Leu696Phe
ENST00000484087.6:c.1960C>T	ENSP00000419481.2:p.Leu654Phe
ENST00000489037.2:c.5320C>T	ENSP00000420781.2:p.Leu1774Phe
ENST00000491747.6:c.2086C>T	ENSP00000420705.2:p.Leu696Phe
ENST00000493795.5:c.5257C>T	ENSP00000418775.1:p.Leu1753Phe
ENST00000493919.6:c.1948C>T	ENSP00000418819.2:p.Leu650Phe
ENST00000494123.6:c.5398C>T	ENSP00000419103.2:p.Leu1800Phe
ENST00000497488.2:c.4510C>T	ENSP00000418986.2:p.Leu1504Phe
ENST00000586385.5:c.328C>T	ENSP00000465818.1:p.Leu110Phe
ENST00000591534.5:c.871C>T	ENSP00000467329.1:p.Leu291Phe
ENST00000591849.5:c.97C>T	ENSP00000465347.1:p.Leu33Phe
ENST00000618469.2:c.5398C>T	ENSP00000478114.2:p.Leu1800Phe
ENST00000634433.2:c.5275C>T	ENSP00000489431.2:p.Leu1759Phe
ENST00000644379.1:c.1785C>T
ENST00000644379.2:c.5464C>T	ENSP00000496570.2:p.Leu1822Phe
ENST00000644555.2:c.1948C>T	ENSP00000494614.2:p.Leu650Phe
ENST00000652672.2:c.5257C>T	ENSP00000498906.2:p.Leu1753Phe
ENST00000700081.1:n.1281C>T