Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290465C>T , CM000668.2:g.135290465C>T	GRCh38
NC_000006.11:g.135611603C>T , CM000668.1:g.135611603C>T	GRCh37
NC_000006.10:g.135653296C>T	NCBI36
NG_008643.1:g.212301G>A
NG_008643.2:g.212301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3546G>A MANE Select	ENSP00000265602.6:p.Met1182Ile
ENST00000498558.6:n.587G>A
ENST00000527681.2:c.1215G>A
ENST00000679434.1:c.5162G>A	ENSP00000505592.1:n.5162G>A
ENST00000679450.1:c.3285G>A	ENSP00000506494.1:p.Met1095Ile
ENST00000679490.1:n.2921G>A
ENST00000679502.1:n.2361-4818G>A
ENST00000679589.1:c.*3574G>A	ENSP00000506644.1:n.*3574G>A
ENST00000679668.1:c.5078G>A	ENSP00000505364.1:n.5078G>A
ENST00000679672.1:c.*1521G>A	ENSP00000505697.1:n.*1521G>A
ENST00000679711.1:c.1840G>A
ENST00000679742.1:c.4896-4818G>A	ENSP00000504890.1:n.4896-4818G>A
ENST00000679890.1:n.2037G>A
ENST00000679925.1:c.3486-4818G>A	ENSP00000505502.1:n.3486-4818G>A
ENST00000679943.1:c.3607G>A	ENSP00000505663.1:n.3607G>A
ENST00000680071.1:n.4319G>A
ENST00000680119.1:c.3771G>A	ENSP00000506403.1:n.3771G>A
ENST00000680328.1:n.655G>A
ENST00000680337.1:c.944-4818G>A
ENST00000680561.1:n.6229-4818G>A
ENST00000680826.1:c.3731G>A	ENSP00000505224.1:n.3731G>A
ENST00000680840.1:c.3774G>A	ENSP00000505809.1:n.3774G>A
ENST00000680965.1:c.*1000G>A	ENSP00000505398.1:n.*1000G>A
ENST00000681022.1:c.3546G>A	ENSP00000505121.1:p.Met1182Ile
ENST00000681057.1:n.2744-4818G>A
ENST00000681196.1:n.4259-4818G>A
ENST00000681301.1:c.3393G>A	ENSP00000505093.1:p.Met1131Ile
ENST00000681331.1:n.1275G>A
ENST00000681332.1:n.4063G>A
ENST00000681340.1:c.3546G>A	ENSP00000505666.1:p.Met1182Ile
ENST00000681365.1:c.3546G>A	ENSP00000506604.1:p.Met1182Ile
ENST00000681488.1:c.3415G>A	ENSP00000505884.1:n.3415G>A
ENST00000681522.1:c.3546G>A	ENSP00000506005.1:p.Met1182Ile
ENST00000681556.1:n.3680G>A
ENST00000681718.1:c.*2033G>A	ENSP00000505266.1:n.*2033G>A
ENST00000681754.1:n.4234G>A
ENST00000681828.1:c.5102G>A	ENSP00000505608.1:n.5102G>A
ENST00000681841.1:c.3546G>A	ENSP00000504965.1:p.Met1182Ile
ENST00000681860.1:c.3362G>A	ENSP00000506250.1:n.3362G>A
ENST00000265602.10:c.3546G>A	ENSP00000265602.6:p.Met1182Ile
ENST00000367799.6:c.1985-4818G>A
ENST00000367800.8:c.3546G>A	ENSP00000356774.4:p.Met1182Ile
ENST00000457866.6:c.3546G>A	ENSP00000388650.2:p.Met1182Ile
ENST00000475846.6:c.1976G>A
ENST00000487135.1:n.155-4818G>A
ENST00000498558.5:n.395G>A
ENST00000527681.1:c.155G>A
NM_001134830.1:c.3546G>A	NP_001128302.1:p.Met1182Ile
NM_001134831.1:c.3546G>A	NP_001128303.1:p.Met1182Ile
NM_017651.4:c.3546G>A	NP_060121.3:p.Met1182Ile
XM_011535910.1:c.3546G>A	XP_011534212.1:p.Met1182Ile
XM_011535911.1:c.3546G>A	XP_011534213.1:p.Met1182Ile
XM_011535914.1:c.*67G>A	XP_011534216.1:n.*67G>A
XM_011535915.1:c.3486-4818G>A	XP_011534217.1:n.3486-4818G>A
XR_942488.1:n.5388G>A
XR_942490.1:n.5328-4818G>A
XR_942493.1:n.5249G>A
XR_942494.1:n.5086G>A
NM_001350503.1:c.3546G>A	NP_001337432.1:p.Met1182Ile
NM_001350504.1:c.3486-4818G>A	NP_001337433.1:n.3486-4818G>A
XM_011535910.3:c.3546G>A	XP_011534212.1:p.Met1182Ile
XM_011535911.3:c.3546G>A	XP_011534213.1:p.Met1182Ile
XM_017010980.2:c.*67G>A	XP_016866469.1:n.*67G>A
XM_017010981.2:c.3492G>A	XP_016866470.1:p.Met1164Ile
XM_024446479.1:c.3492G>A	XP_024302247.1:p.Met1164Ile
XR_001743479.2:n.5485G>A
XR_001743480.2:n.4313G>A
XR_001743481.2:n.4278G>A
XR_001743482.2:n.4181G>A
XR_001743483.2:n.5425-4818G>A
XR_001743484.2:n.5346G>A
XR_001743485.2:n.4042G>A
XR_001743486.2:n.5286-4818G>A
XR_001743487.2:n.5468G>A
XR_001743488.1:n.5710G>A
XR_001743489.2:n.5183G>A
XR_001743490.2:n.4164G>A
XR_002956286.1:n.3817G>A
XR_002956287.1:n.3757-4818G>A
NM_001134831.2:c.3546G>A MANE Select	NP_001128303.1:p.Met1182Ile
NM_001134830.2:c.3546G>A	NP_001128302.1:p.Met1182Ile
NM_001350503.2:c.3546G>A	NP_001337432.1:p.Met1182Ile
NM_001350504.2:c.3486-4818G>A	NP_001337433.1:n.3486-4818G>A
NM_017651.5:c.3546G>A	NP_060121.3:p.Met1182Ile

Linked Data

Genomic Alleles

Transcript Alleles