Canonical Allele Identifier: CA003234

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063931G>A , CM000679.2:g.43063931G>A	GRCh38
NC_000017.10:g.41215948G>A , CM000679.1:g.41215948G>A	GRCh37
NC_000017.9:g.38469474G>A	NCBI36
NG_005905.2:g.154053C>T , LRG_292:g.154053C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5095C>T MANE Select	NP_009225.1:p.Arg1699Trp
ENST00000357654.9:c.5095C>T MANE Select	ENSP00000350283.3:p.Arg1699Trp
NM_007294.3:c.5095C>T , LRG_292t1:c.5095C>T	NP_009225.1:p.Arg1699Trp
NM_007297.3:c.4954C>T	NP_009228.2:p.Arg1652Trp
NM_007297.4:c.4954C>T	NP_009228.2:p.Arg1652Trp
NM_007298.3:c.1783C>T	NP_009229.2:p.Arg595Trp
NM_007299.3:c.1783C>T	NP_009230.2:p.Arg595Trp
NM_007299.4:c.1783C>T	NP_009230.2:p.Arg595Trp
NM_007300.3:c.5158C>T	NP_009231.2:p.Arg1720Trp
NM_007300.4:c.5158C>T	NP_009231.2:p.Arg1720Trp
NR_027676.1:n.5231C>T
NR_027676.2:n.5272C>T
ENST00000352993.7:c.1669C>T	ENSP00000312236.5:p.Arg557Trp
ENST00000357654.7:c.5095C>T	ENSP00000350283.3:p.Arg1699Trp
ENST00000461221.5:c.*4878C>T	ENSP00000418548.1:n.*4878C>T
ENST00000461574.2:c.5092C>T	ENSP00000417241.2:p.Arg1698Trp
ENST00000468300.5:c.1783C>T	ENSP00000417148.1:p.Arg595Trp
ENST00000470026.6:c.5095C>T	ENSP00000419274.2:p.Arg1699Trp
ENST00000471181.6:c.5158C>T	ENSP00000418960.2:p.Arg1720Trp
ENST00000471181.7:c.5158C>T	ENSP00000418960.2:p.Arg1720Trp
ENST00000473961.6:c.4969C>T	ENSP00000420201.2:p.Arg1657Trp
ENST00000476777.6:c.5089C>T	ENSP00000417554.2:p.Arg1697Trp
ENST00000477152.6:c.5017C>T	ENSP00000419988.2:p.Arg1673Trp
ENST00000478531.5:c.1783C>T	ENSP00000420412.1:p.Arg595Trp
ENST00000478531.6:c.1783C>T	ENSP00000420412.2:p.Arg595Trp
ENST00000484087.5:c.1408C>T	ENSP00000419481.1:p.Arg470Trp
ENST00000484087.6:c.1657C>T	ENSP00000419481.2:p.Arg553Trp
ENST00000489037.2:c.5017C>T	ENSP00000420781.2:p.Arg1673Trp
ENST00000491747.6:c.1783C>T	ENSP00000420705.2:p.Arg595Trp
ENST00000493795.5:c.4954C>T	ENSP00000418775.1:p.Arg1652Trp
ENST00000493919.5:c.1645C>T	ENSP00000418819.1:p.Arg549Trp
ENST00000493919.6:c.1645C>T	ENSP00000418819.2:p.Arg549Trp
ENST00000494123.6:c.5095C>T	ENSP00000419103.2:p.Arg1699Trp
ENST00000497488.2:c.4207C>T	ENSP00000418986.2:p.Arg1403Trp
ENST00000586385.5:c.25C>T	ENSP00000465818.1:p.Arg9Trp
ENST00000591534.5:c.568C>T	ENSP00000467329.1:p.Arg190Trp
ENST00000591849.5:c.-98-13741C>T	ENSP00000465347.1:n.-98-13741C>T
ENST00000618469.2:c.5095C>T	ENSP00000478114.2:p.Arg1699Trp
ENST00000634433.2:c.4972C>T	ENSP00000489431.2:p.Arg1658Trp
ENST00000644379.1:c.1482C>T
ENST00000644379.2:c.5161C>T	ENSP00000496570.2:p.Arg1721Trp
ENST00000644555.2:c.1645C>T	ENSP00000494614.2:p.Arg549Trp
ENST00000652672.2:c.4954C>T	ENSP00000498906.2:p.Arg1652Trp