Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95834630C>T , CM000673.2:g.95834630C>T	GRCh38
NC_000011.9:g.95567794C>T , CM000673.1:g.95567794C>T	GRCh37
NC_000011.8:g.95207442C>T	NCBI36
NG_008333.1:g.94578G>A , LRG_257:g.94578G>A
NG_029829.1:g.49170C>T , LRG_526:g.49170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346299.10:c.*660G>A MANE Select	ENSP00000345752.6:n.*660G>A
ENST00000393223.8:c.*660G>A	ENSP00000376915.3:n.*660G>A
ENST00000674528.1:c.*660G>A	ENSP00000501567.1:n.*660G>A
ENST00000674610.1:c.*660G>A	ENSP00000501688.1:n.*660G>A
ENST00000674901.1:n.3730G>A
ENST00000674924.1:c.*660G>A	ENSP00000502433.1:n.*660G>A
ENST00000674950.1:c.*2781G>A	ENSP00000502425.1:n.*2781G>A
ENST00000674968.1:c.*660G>A	ENSP00000502567.1:n.*660G>A
ENST00000674974.1:c.*2527G>A	ENSP00000502337.1:n.*2527G>A
ENST00000674989.1:c.*660G>A	ENSP00000502829.1:n.*660G>A
ENST00000675022.1:c.*660G>A	ENSP00000502722.1:n.*660G>A
ENST00000675024.1:n.3763G>A
ENST00000675030.1:c.*5761G>A	ENSP00000502386.1:n.*5761G>A
ENST00000675034.1:n.3751G>A
ENST00000675174.1:c.*660G>A	ENSP00000502032.1:n.*660G>A
ENST00000675196.1:c.*660G>A	ENSP00000501867.1:n.*660G>A
ENST00000675237.1:n.3755G>A
ENST00000675288.1:c.*660G>A	ENSP00000501942.1:n.*660G>A
ENST00000675320.1:c.*2389G>A	ENSP00000502076.1:n.*2389G>A
ENST00000675362.1:c.*660G>A	ENSP00000501989.1:n.*660G>A
ENST00000675413.1:n.3553G>A
ENST00000675438.1:c.2283G>A	ENSP00000502388.1:n.2283G>A
ENST00000675454.1:c.*660G>A	ENSP00000501781.1:n.*660G>A
ENST00000675477.1:c.*660G>A	ENSP00000501751.1:n.*660G>A
ENST00000675489.1:c.*660G>A	ENSP00000501702.1:n.*660G>A
ENST00000675495.1:n.3664G>A
ENST00000675636.1:c.*660G>A	ENSP00000501850.1:n.*660G>A
ENST00000675652.1:c.*660G>A	ENSP00000502694.1:n.*660G>A
ENST00000675660.1:c.*660G>A	ENSP00000502824.1:n.*660G>A
ENST00000675767.1:n.3644G>A
ENST00000675807.1:c.*660G>A	ENSP00000501640.1:n.*660G>A
ENST00000675848.1:c.*660G>A	ENSP00000502057.1:n.*660G>A
ENST00000675896.1:c.*1814+691G>A	ENSP00000502487.1:n.*1814+691G>A
ENST00000675910.1:c.*2530G>A	ENSP00000502622.1:n.*2530G>A
ENST00000675922.1:c.*2483G>A	ENSP00000502168.1:n.*2483G>A
ENST00000675933.1:c.*660G>A	ENSP00000502575.1:n.*660G>A
ENST00000675957.1:n.3654G>A
ENST00000675981.1:c.*660G>A	ENSP00000502204.1:n.*660G>A
ENST00000676027.1:c.*660G>A	ENSP00000502405.1:n.*660G>A
ENST00000676146.1:c.*2203G>A	ENSP00000502583.1:n.*2203G>A
ENST00000676166.1:c.*660G>A	ENSP00000501632.1:n.*660G>A
ENST00000676177.1:c.*2505G>A	ENSP00000501635.1:n.*2505G>A
ENST00000676261.1:c.*660G>A	ENSP00000501675.1:n.*660G>A
ENST00000676268.1:c.*1910G>A	ENSP00000502444.1:n.*1910G>A
ENST00000676272.1:c.*660G>A	ENSP00000501601.1:n.*660G>A
ENST00000676378.1:c.*660G>A	ENSP00000502736.1:n.*660G>A
ENST00000676388.1:c.*2332G>A	ENSP00000501866.1:n.*2332G>A
ENST00000676393.1:n.3628G>A
ENST00000676432.1:n.3794G>A
ENST00000676440.1:c.*660G>A	ENSP00000501926.1:n.*660G>A
ENST00000346299.9:c.*660G>A	ENSP00000345752.5:n.*660G>A
ENST00000352297.11:c.*660G>A	ENSP00000343737.7:n.*660G>A
ENST00000393223.7:c.*660G>A	ENSP00000376915.3:n.*660G>A
ENST00000409459.5:c.*660G>A	ENSP00000386882.1:n.*660G>A
NM_001243571.1:c.*660G>A	NP_001230500.1:n.*660G>A
NM_016156.5:c.660G>A , LRG_257t1:c.660G>A	NP_057240.3:n.*660G>A
NM_201278.2:c.*660G>A	NP_958435.1:n.*660G>A
NM_201281.2:c.*660G>A	NP_958438.1:n.*660G>A
XM_005274374.1:c.*660G>A	XP_005274431.1:n.*660G>A
XM_005274375.1:c.*660G>A	XP_005274432.1:n.*660G>A
XM_006718934.1:c.*660G>A	XP_006718997.1:n.*660G>A
XM_006718935.1:c.*660G>A	XP_006718998.1:n.*660G>A
XM_006718936.2:c.*660G>A	XP_006718999.1:n.*660G>A
XM_011543058.1:c.*660G>A	XP_011541360.1:n.*660G>A
XM_011543059.1:c.*660G>A	XP_011541361.1:n.*660G>A
XM_005274374.3:c.*660G>A	XP_005274431.1:n.*660G>A
XM_005274375.3:c.*660G>A	XP_005274432.1:n.*660G>A
NM_001243571.2:c.*660G>A	NP_001230500.1:n.*660G>A
NM_016156.6:c.*660G>A MANE Select	NP_057240.3:n.*660G>A
NM_201278.3:c.*660G>A	NP_958435.1:n.*660G>A
NM_201281.3:c.*660G>A	NP_958438.1:n.*660G>A

Linked Data

Genomic Alleles

Transcript Alleles