Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498548A>T , CM000672.2:g.121498548A>T	GRCh38
NC_000010.10:g.123258062A>T , CM000672.1:g.123258062A>T	GRCh37
NC_000010.9:g.123248052A>T	NCBI36
NG_012449.1:g.104911T>A
NG_012449.2:g.104911T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1622T>A MANE Plus Clinical	ENSP00000410294.2:p.Met541Lys
ENST00000351936.11:c.1613T>A	ENSP00000309878.10:p.Met538Lys
ENST00000638709.2:c.443T>A	ENSP00000491912.2:p.Met148Lys
ENST00000682296.1:n.961T>A
ENST00000682550.1:c.1268T>A	ENSP00000507633.1:p.Met423Lys
ENST00000682772.1:c.443T>A	ENSP00000506848.1:p.Met148Lys
ENST00000682904.1:n.439T>A
ENST00000683211.1:c.1613T>A	ENSP00000508257.1:p.Met538Lys
ENST00000683250.1:c.*321T>A	ENSP00000506847.1:n.*321T>A
ENST00000683418.1:n.3960T>A
ENST00000684153.1:c.1268T>A	ENSP00000506937.1:p.Met423Lys
ENST00000684516.1:n.2632T>A
ENST00000358487.10:c.1619T>A MANE Select	ENSP00000351276.6:p.Met540Lys
ENST00000336553.10:c.1346T>A	ENSP00000337665.6:p.Met449Lys
ENST00000346997.6:c.1613T>A	ENSP00000263451.5:p.Met538Lys
ENST00000351936.10:c.1619T>A	ENSP00000309878.9:p.Met540Lys
ENST00000356226.8:c.1268T>A	ENSP00000348559.4:p.Met423Lys
ENST00000357555.9:c.1352T>A	ENSP00000350166.5:p.Met451Lys
ENST00000358487.9:c.1619T>A	ENSP00000351276.5:p.Met540Lys
ENST00000360144.7:c.1355T>A	ENSP00000353262.3:p.Met452Lys
ENST00000369056.5:c.1622T>A	ENSP00000358052.1:p.Met541Lys
ENST00000369058.7:c.1622T>A	ENSP00000358054.3:p.Met541Lys
ENST00000369059.5:c.1277T>A	ENSP00000358055.1:p.Met426Lys
ENST00000369060.8:c.1271T>A	ENSP00000358056.4:p.Met424Lys
ENST00000369061.8:c.1283T>A	ENSP00000358057.4:p.Met428Lys
ENST00000429361.5:c.395T>A	ENSP00000404219.1:p.Met132Lys
ENST00000457416.6:c.1622T>A	ENSP00000410294.2:p.Met541Lys
ENST00000478859.5:c.935T>A	ENSP00000474011.1:p.Met312Lys
ENST00000604236.5:c.*666T>A	ENSP00000474109.1:n.*666T>A
ENST00000613048.4:c.1352T>A	ENSP00000484154.1:p.Met451Lys
NM_000141.4:c.1619T>A	NP_000132.3:p.Met540Lys
NM_001144913.1:c.1622T>A	NP_001138385.1:p.Met541Lys
NM_001144914.1:c.1283T>A	NP_001138386.1:p.Met428Lys
NM_001144915.1:c.1352T>A	NP_001138387.1:p.Met451Lys
NM_001144916.1:c.1274T>A	NP_001138388.1:p.Met425Lys
NM_001144917.1:c.1271T>A	NP_001138389.1:p.Met424Lys
NM_001144918.1:c.1268T>A	NP_001138390.1:p.Met423Lys
NM_001144919.1:c.1355T>A	NP_001138391.1:p.Met452Lys
NM_022970.3:c.1622T>A	NP_075259.4:p.Met541Lys
NM_023029.2:c.1352T>A	NP_075418.1:p.Met451Lys
NR_073009.1:n.2069T>A
XM_006717708.2:c.1673T>A	XP_006717771.1:p.Met558Lys
XM_006717709.2:c.1670T>A	XP_006717772.1:p.Met557Lys
XM_006717710.2:c.1679T>A	XP_006717773.1:p.Met560Lys
XM_006717711.2:c.1412T>A	XP_006717774.1:p.Met471Lys
XM_006717712.2:c.1334T>A	XP_006717775.1:p.Met445Lys
XM_006717713.2:c.1676T>A	XP_006717776.1:p.Met559Lys
XM_011539510.1:c.935T>A	XP_011537812.1:p.Met312Lys
NM_001320654.1:c.935T>A	NP_001307583.1:p.Met312Lys
NM_001320658.1:c.1613T>A	NP_001307587.1:p.Met538Lys
XM_006717708.3:c.1673T>A	XP_006717771.1:p.Met558Lys
XM_006717710.4:c.1679T>A	XP_006717773.1:p.Met560Lys
XM_017015920.2:c.1673T>A	XP_016871409.1:p.Met558Lys
XM_017015921.2:c.1670T>A	XP_016871410.1:p.Met557Lys
XM_017015924.2:c.1331T>A	XP_016871413.1:p.Met444Lys
XM_017015925.2:c.1325T>A	XP_016871414.1:p.Met442Lys
XM_024447887.1:c.1409T>A	XP_024303655.1:p.Met470Lys
XM_024447888.1:c.1406T>A	XP_024303656.1:p.Met469Lys
XM_024447889.1:c.1403T>A	XP_024303657.1:p.Met468Lys
XM_024447890.1:c.1412T>A	XP_024303658.1:p.Met471Lys
XM_024447891.1:c.1334T>A	XP_024303659.1:p.Met445Lys
XM_024447892.1:c.449T>A	XP_024303660.1:p.Met150Lys
NM_000141.5:c.1619T>A MANE Select	NP_000132.3:p.Met540Lys
NM_001144917.2:c.1271T>A	NP_001138389.1:p.Met424Lys
NM_001144918.2:c.1268T>A	NP_001138390.1:p.Met423Lys
NM_001144919.2:c.1355T>A	NP_001138391.1:p.Met452Lys
NM_001320658.2:c.1613T>A	NP_001307587.1:p.Met538Lys
NR_073009.2:n.2055T>A
NM_001144915.2:c.1352T>A	NP_001138387.1:p.Met451Lys
NM_001144916.2:c.1274T>A	NP_001138388.1:p.Met425Lys
NM_001320654.2:c.935T>A	NP_001307583.1:p.Met312Lys

Linked Data

Genomic Alleles

Transcript Alleles