Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77482291G>A , CM000679.2:g.77482291G>A	GRCh38
NC_000017.10:g.75478373G>A , CM000679.1:g.75478373G>A	GRCh37
NC_000017.9:g.72989968G>A	NCBI36
NG_011683.1:g.205882G>A
NG_011683.2:g.205882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.815G>A MANE Plus Clinical	ENSP00000329161.8:p.Arg272Gln
ENST00000427177.6:c.869G>A MANE Select	ENSP00000391249.1:p.Arg290Gln
ENST00000588690.6:c.377G>A	ENSP00000468668.1:p.Arg126Gln
ENST00000589250.6:n.173G>A
ENST00000590294.6:n.918G>A
ENST00000592481.6:c.116G>A	ENSP00000502589.1:p.Arg39Gln
ENST00000329047.12:c.815G>A	ENSP00000329161.8:p.Arg272Gln
ENST00000423034.6:c.848G>A	ENSP00000405877.1:p.Arg283Gln
ENST00000427177.5:c.869G>A	ENSP00000391249.1:p.Arg290Gln
ENST00000427180.5:c.533G>A	ENSP00000415624.1:p.Arg178Gln
ENST00000427674.6:c.377G>A	ENSP00000403194.1:p.Arg126Gln
ENST00000431235.6:c.377G>A	ENSP00000406987.2:p.Arg126Gln
ENST00000449803.6:c.377G>A	ENSP00000400181.2:p.Arg126Gln
ENST00000541152.6:c.116G>A	ENSP00000438089.2:p.Arg39Gln
ENST00000585638.1:c.116G>A	ENSP00000466115.1:p.Arg39Gln
ENST00000585929.5:c.116G>A	ENSP00000467780.1:p.Arg39Gln
ENST00000585930.5:c.197G>A	ENSP00000468120.1:p.Arg66Gln
ENST00000586128.5:c.116G>A	ENSP00000467792.1:p.Arg39Gln
ENST00000586433.5:c.116G>A	ENSP00000468110.1:p.Arg39Gln
ENST00000586521.5:c.116G>A	ENSP00000466170.1:p.Arg39Gln
ENST00000588575.1:c.196-5191G>A	ENSP00000468090.1:n.196-5191G>A
ENST00000588690.5:c.377G>A	ENSP00000468668.1:p.Arg126Gln
ENST00000588958.6:c.116G>A	ENSP00000464832.1:p.Arg39Gln
ENST00000589920.5:c.116G>A	ENSP00000466532.1:p.Arg39Gln
ENST00000590059.5:c.320G>A	ENSP00000466164.1:p.Arg107Gln
ENST00000590294.5:c.815G>A	ENSP00000465464.1:p.Arg272Gln
ENST00000590917.5:c.116G>A	ENSP00000467619.1:p.Arg39Gln
ENST00000590938.5:c.116G>A	ENSP00000466201.1:p.Arg39Gln
ENST00000591020.5:c.116G>A	ENSP00000467908.1:p.Arg39Gln
ENST00000591088.5:c.116G>A	ENSP00000466247.1:p.Arg39Gln
ENST00000591198.5:c.812G>A	ENSP00000468406.1:p.Arg271Gln
ENST00000591472.6:c.116G>A	ENSP00000468410.2:p.Arg39Gln
ENST00000591704.5:c.116G>A	ENSP00000465415.1:p.Arg39Gln
ENST00000592420.1:c.296G>A	ENSP00000467051.1:p.Arg99Gln
ENST00000592481.5:n.433G>A
ENST00000592951.5:c.116G>A	ENSP00000466648.1:p.Arg39Gln
ENST00000593189.6:c.116G>A	ENSP00000465904.1:p.Arg39Gln
NM_001113491.1:c.869G>A	NP_001106963.1:p.Arg290Gln
NM_001113492.1:c.377G>A	NP_001106964.1:p.Arg126Gln
NM_001113493.1:c.848G>A	NP_001106965.1:p.Arg283Gln
NM_001113494.1:c.377G>A	NP_001106966.1:p.Arg126Gln
NM_001113495.1:c.533G>A	NP_001106967.1:p.Arg178Gln
NM_001113496.1:c.116G>A	NP_001106968.1:p.Arg39Gln
NM_001293695.1:c.812G>A	NP_001280624.1:p.Arg271Gln
NM_001293696.1:c.197G>A	NP_001280625.1:p.Arg66Gln
NM_001293697.1:c.116G>A	NP_001280626.1:p.Arg39Gln
NM_001293698.1:c.116G>A	NP_001280627.1:p.Arg39Gln
NM_006640.4:c.815G>A	NP_006631.2:p.Arg272Gln
XM_005256962.1:c.116G>A	XP_005257019.1:p.Arg39Gln
XM_006721643.2:c.377G>A	XP_006721706.1:p.Arg126Gln
XM_006721644.1:c.116G>A	XP_006721707.1:p.Arg39Gln
XM_011524204.1:c.962G>A	XP_011522506.1:p.Arg321Gln
XM_011524205.1:c.959G>A	XP_011522507.1:p.Arg320Gln
XM_011524206.1:c.824G>A	XP_011522508.1:p.Arg275Gln
XM_011524207.1:c.377G>A	XP_011522509.1:p.Arg126Gln
XM_011524208.1:c.116G>A	XP_011522510.1:p.Arg39Gln
XM_011524209.1:c.116G>A	XP_011522511.1:p.Arg39Gln
NM_001113491.2:c.869G>A MANE Select	NP_001106963.1:p.Arg290Gln
NM_001113493.2:c.848G>A	NP_001106965.1:p.Arg283Gln
NM_001113496.2:c.116G>A	NP_001106968.1:p.Arg39Gln
NM_001293695.2:c.812G>A	NP_001280624.1:p.Arg271Gln
NM_001293696.2:c.197G>A	NP_001280625.1:p.Arg66Gln
NM_001293697.2:c.116G>A	NP_001280626.1:p.Arg39Gln
NM_001293698.2:c.116G>A	NP_001280627.1:p.Arg39Gln
NM_001113492.2:c.377G>A	NP_001106964.1:p.Arg126Gln
NM_001113495.2:c.116G>A	NP_001106967.2:p.Arg39Gln
NM_006640.5:c.815G>A MANE Plus Clinical	NP_006631.2:p.Arg272Gln

Linked Data

Genomic Alleles

Transcript Alleles