Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364004G>A , CM000670.2:g.74364004G>A	GRCh38
NC_000008.10:g.75276239G>A , CM000670.1:g.75276239G>A	GRCh37
NC_000008.9:g.75438794G>A	NCBI36
NG_008787.2:g.47875G>A
NG_008787.3:g.47875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.714G>A MANE Select	ENSP00000220822.7:p.Trp238Ter
ENST00000434412.3:c.582G>A	ENSP00000417006.3:p.Trp194Ter
ENST00000520797.6:n.825G>A
ENST00000521096.6:n.570G>A
ENST00000522568.2:c.*386G>A	ENSP00000430136.1:n.*386G>A
ENST00000523640.2:c.165+12683G>A	ENSP00000502017.1:n.165+12683G>A
ENST00000524195.2:c.280+951G>A	ENSP00000502308.1:n.280+951G>A
ENST00000674612.1:c.387G>A	ENSP00000501864.1:p.Trp129Ter
ENST00000674710.1:c.694+951G>A	ENSP00000502762.1:n.694+951G>A
ENST00000674754.1:c.*2277G>A	ENSP00000502063.1:n.*2277G>A
ENST00000674756.1:c.*366+951G>A	ENSP00000501860.1:n.*366+951G>A
ENST00000674806.1:c.387G>A	ENSP00000502637.1:p.Trp129Ter
ENST00000674865.1:c.510G>A	ENSP00000502437.1:p.Trp170Ter
ENST00000674926.1:c.*1346G>A	ENSP00000501799.1:n.*1346G>A
ENST00000674934.1:c.*402G>A	ENSP00000502187.1:n.*402G>A
ENST00000674944.1:c.*1317G>A	ENSP00000501858.1:n.*1317G>A
ENST00000674946.1:c.694+951G>A	ENSP00000501569.1:n.694+951G>A
ENST00000674973.1:c.408G>A	ENSP00000502447.1:p.Trp136Ter
ENST00000675007.1:c.*452G>A	ENSP00000502119.1:n.*452G>A
ENST00000675060.1:c.*379G>A	ENSP00000501616.1:n.*379G>A
ENST00000675165.1:c.711G>A	ENSP00000502612.1:p.Trp237Ter
ENST00000675220.1:c.387G>A	ENSP00000502588.1:p.Trp129Ter
ENST00000675265.1:c.*464G>A	ENSP00000501848.1:n.*464G>A
ENST00000675336.1:c.*200G>A	ENSP00000502120.1:n.*200G>A
ENST00000675376.1:c.387G>A	ENSP00000502838.1:p.Trp129Ter
ENST00000675463.1:c.792G>A	ENSP00000502327.1:p.Trp264Ter
ENST00000675472.1:c.*200G>A	ENSP00000501946.1:n.*200G>A
ENST00000675474.1:n.299G>A
ENST00000675560.1:c.*366+951G>A	ENSP00000502118.1:n.*366+951G>A
ENST00000675625.1:c.*386G>A	ENSP00000501626.1:n.*386G>A
ENST00000675633.1:c.*121G>A	ENSP00000501785.1:n.*121G>A
ENST00000675661.1:c.*474G>A	ENSP00000501958.1:n.*474G>A
ENST00000675706.1:n.2672G>A
ENST00000675821.1:c.387G>A	ENSP00000502198.1:p.Trp129Ter
ENST00000675832.1:c.*386G>A	ENSP00000502041.1:n.*386G>A
ENST00000675928.1:c.540G>A	ENSP00000501568.1:p.Trp180Ter
ENST00000675944.1:c.510G>A	ENSP00000502673.1:p.Trp170Ter
ENST00000675999.1:c.694+951G>A	ENSP00000502572.1:n.694+951G>A
ENST00000676049.1:c.*616G>A	ENSP00000501912.1:n.*616G>A
ENST00000676112.1:c.780G>A	ENSP00000502295.1:p.Trp260Ter
ENST00000676143.1:c.387G>A	ENSP00000502828.1:p.Trp129Ter
ENST00000676207.1:c.694+951G>A	ENSP00000502638.1:n.694+951G>A
ENST00000676377.1:c.387G>A	ENSP00000502756.1:p.Trp129Ter
ENST00000676415.1:c.*20G>A	ENSP00000502665.1:n.*20G>A
ENST00000676443.1:c.666G>A	ENSP00000501769.1:p.Trp222Ter
ENST00000220822.11:c.714G>A	ENSP00000220822.7:p.Trp238Ter
ENST00000434412.2:c.510G>A	ENSP00000417006.2:p.Trp170Ter
ENST00000520797.5:n.479G>A
ENST00000521096.5:n.520G>A
ENST00000522568.1:c.*386G>A	ENSP00000430136.1:n.*386G>A
ENST00000524195.1:n.103+951G>A
ENST00000524366.5:n.558G>A
NM_001040875.2:c.510G>A	NP_001035808.1:p.Trp170Ter
NM_018972.2:c.714G>A	NP_061845.2:p.Trp238Ter
NR_046346.1:n.648G>A
XM_011517551.1:c.1008G>A	XP_011515853.1:p.Trp336Ter
XM_011517552.1:c.387G>A	XP_011515854.1:p.Trp129Ter
NM_001040875.3:c.510G>A	NP_001035808.1:p.Trp170Ter
NM_001362929.1:c.387G>A	NP_001349858.1:p.Trp129Ter
NM_001362930.1:c.540G>A	NP_001349859.1:p.Trp180Ter
NM_001362931.1:c.694+951G>A	NP_001349860.1:n.694+951G>A
NM_001362932.1:c.387G>A	NP_001349861.1:p.Trp129Ter
NM_018972.3:c.714G>A	NP_061845.2:p.Trp238Ter
NM_001362931.2:c.694+951G>A	NP_001349860.1:n.694+951G>A
NM_018972.4:c.714G>A MANE Select	NP_061845.2:p.Trp238Ter
NM_001040875.4:c.510G>A	NP_001035808.1:p.Trp170Ter
NM_001362929.2:c.387G>A	NP_001349858.1:p.Trp129Ter
NM_001362930.2:c.540G>A	NP_001349859.1:p.Trp180Ter
NM_001362932.2:c.387G>A	NP_001349861.1:p.Trp129Ter

Linked Data

Genomic Alleles

Transcript Alleles