Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332052A>T , CM000663.2:g.45332052A>T	GRCh38
NC_000001.10:g.45797724A>T , CM000663.1:g.45797724A>T	GRCh37
NC_000001.9:g.45570311A>T	NCBI36
NG_008189.1:g.13419T>A , LRG_220:g.13419T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.500T>A	ENSP00000410263.2:p.Leu167Gln
ENST00000435155.2:c.917T>A	ENSP00000403655.2:p.Leu306Gln
ENST00000467459.6:c.884T>A	ENSP00000435889.2:p.Leu295Gln
ENST00000483127.2:c.902T>A	ENSP00000436469.2:p.Leu301Gln
ENST00000485271.6:c.884T>A	ENSP00000431264.2:p.Leu295Gln
ENST00000529892.6:c.926T>A	ENSP00000432528.2:p.Leu309Gln
ENST00000533178.6:c.*213T>A	ENSP00000436430.2:n.*213T>A
ENST00000672314.2:c.884T>A	ENSP00000500828.2:p.Leu295Gln
ENST00000710952.2:c.968T>A MANE Plus Clinical	ENSP00000518552.2:p.Leu323Gln
ENST00000672818.3:c.959T>A	ENSP00000500891.1:p.Leu320Gln
ENST00000456914.7:c.884T>A MANE Select	ENSP00000407590.2:p.Leu295Gln
ENST00000461495.6:c.*623T>A	ENSP00000437166.1:n.*623T>A
ENST00000671898.1:c.1472T>A	ENSP00000499896.1:p.Leu491Gln
ENST00000672011.1:c.*213T>A	ENSP00000500418.1:n.*213T>A
ENST00000672314.1:c.884T>A	ENSP00000500828.1:p.Leu295Gln
ENST00000672593.1:c.*937T>A	ENSP00000500455.1:n.*937T>A
ENST00000672764.1:c.*213T>A	ENSP00000500886.1:n.*213T>A
ENST00000672818.2:c.959T>A	ENSP00000500891.1:p.Leu320Gln
ENST00000673134.1:c.*581T>A	ENSP00000500526.1:n.*581T>A
ENST00000354383.10:c.887T>A	ENSP00000346354.6:p.Leu296Gln
ENST00000355498.6:c.884T>A	ENSP00000347685.2:p.Leu295Gln
ENST00000372098.7:c.959T>A	ENSP00000361170.3:p.Leu320Gln
ENST00000372104.5:c.884T>A	ENSP00000361176.1:p.Leu295Gln
ENST00000372110.7:c.929T>A	ENSP00000361182.3:p.Leu310Gln
ENST00000372115.7:c.926T>A	ENSP00000361187.3:p.Leu309Gln
ENST00000412971.5:c.500T>A	ENSP00000410263.1:p.Leu167Gln
ENST00000448481.5:c.917T>A	ENSP00000409718.1:p.Leu306Gln
ENST00000450313.5:c.968T>A	ENSP00000408176.1:p.Leu323Gln
ENST00000456914.6:c.884T>A	ENSP00000407590.2:p.Leu295Gln
ENST00000461495.5:c.*623T>A	ENSP00000437166.1:n.*623T>A
ENST00000462388.5:n.575T>A
ENST00000466231.1:n.249T>A
ENST00000467459.5:c.278T>A	ENSP00000435889.1:p.Leu93Gln
ENST00000470256.5:c.*213T>A	ENSP00000434985.1:n.*213T>A
ENST00000475516.5:c.*697T>A	ENSP00000433843.1:n.*697T>A
ENST00000481571.5:c.*697T>A	ENSP00000436597.1:n.*697T>A
ENST00000482094.5:n.32T>A
ENST00000488731.6:c.188-496T>A	ENSP00000432330.1:n.188-496T>A
ENST00000528013.6:c.926T>A	ENSP00000433130.2:p.Leu309Gln
ENST00000529892.5:c.148T>A
ENST00000529984.5:c.188-496T>A	ENSP00000437093.1:n.188-496T>A
ENST00000531105.5:c.115+2339T>A	ENSP00000431292.1:n.115+2339T>A
ENST00000533178.5:c.513T>A	ENSP00000436430.1:n.513T>A
NM_001048171.1:c.926T>A	NP_001041636.1:p.Leu309Gln
NM_001048172.1:c.887T>A	NP_001041637.1:p.Leu296Gln
NM_001048173.1:c.884T>A	NP_001041638.1:p.Leu295Gln
NM_001048174.1:c.884T>A	NP_001041639.1:p.Leu295Gln
NM_001128425.1:c.968T>A , LRG_220t1:c.968T>A	NP_001121897.1:p.Leu323Gln
NM_001293190.1:c.929T>A	NP_001280119.1:p.Leu310Gln
NM_001293191.1:c.917T>A	NP_001280120.1:p.Leu306Gln
NM_001293192.1:c.608T>A	NP_001280121.1:p.Leu203Gln
NM_001293195.1:c.884T>A	NP_001280124.1:p.Leu295Gln
NM_001293196.1:c.608T>A	NP_001280125.1:p.Leu203Gln
NM_012222.2:c.959T>A	NP_036354.1:p.Leu320Gln
XM_011541497.1:c.944T>A	XP_011539799.1:p.Leu315Gln
XM_011541498.1:c.926T>A	XP_011539800.1:p.Leu309Gln
XM_011541499.1:c.926T>A	XP_011539801.1:p.Leu309Gln
XM_011541500.1:c.926T>A	XP_011539802.1:p.Leu309Gln
XM_011541501.1:c.926T>A	XP_011539803.1:p.Leu309Gln
XM_011541502.1:c.926T>A	XP_011539804.1:p.Leu309Gln
XM_011541503.1:c.926T>A	XP_011539805.1:p.Leu309Gln
XM_011541504.1:c.917T>A	XP_011539806.1:p.Leu306Gln
XM_011541505.1:c.506T>A	XP_011539807.1:p.Leu169Gln
XM_011541506.1:c.506T>A	XP_011539808.1:p.Leu169Gln
XM_011541507.1:c.497T>A	XP_011539809.1:p.Leu166Gln
XM_011541508.1:c.512T>A	XP_011539810.1:p.Leu171Gln
XR_946658.1:n.1015T>A
NM_001350650.1:c.539T>A	NP_001337579.1:p.Leu180Gln
NM_001350651.1:c.539T>A	NP_001337580.1:p.Leu180Gln
NR_146882.1:n.1142T>A
NR_146883.1:n.956T>A
XM_011541497.3:c.944T>A	XP_011539799.1:p.Leu315Gln
XM_011541500.3:c.926T>A	XP_011539802.1:p.Leu309Gln
XM_011541501.2:c.926T>A	XP_011539803.1:p.Leu309Gln
XM_011541502.2:c.926T>A	XP_011539804.1:p.Leu309Gln
XM_011541503.2:c.926T>A	XP_011539805.1:p.Leu309Gln
XM_011541504.2:c.917T>A	XP_011539806.1:p.Leu306Gln
XM_011541505.2:c.506T>A	XP_011539807.1:p.Leu169Gln
XM_011541506.2:c.506T>A	XP_011539808.1:p.Leu169Gln
XM_017001331.1:c.926T>A	XP_016856820.1:p.Leu309Gln
XM_017001332.1:c.926T>A	XP_016856821.1:p.Leu309Gln
XM_017001333.1:c.926T>A	XP_016856822.1:p.Leu309Gln
XM_017001334.1:c.887T>A	XP_016856823.1:p.Leu296Gln
XM_017001335.1:c.608T>A	XP_016856824.1:p.Leu203Gln
XM_017001336.1:c.539T>A	XP_016856825.1:p.Leu180Gln
XM_017001337.1:c.539T>A	XP_016856826.1:p.Leu180Gln
XM_024447244.1:c.539T>A	XP_024303012.1:p.Leu180Gln
XM_024447245.1:c.539T>A	XP_024303013.1:p.Leu180Gln
XM_024447248.1:c.497T>A	XP_024303016.1:p.Leu166Gln
XM_024447249.1:c.368T>A	XP_024303017.1:p.Leu123Gln
XM_024447250.1:c.368T>A	XP_024303018.1:p.Leu123Gln
XM_024447251.1:c.368T>A	XP_024303019.1:p.Leu123Gln
XR_001737190.1:n.929T>A
XR_001737192.1:n.741T>A
XR_002956643.1:n.921T>A
XR_002956644.1:n.1456T>A
XR_946658.2:n.1029T>A
NM_001048171.2:c.884T>A	NP_001041636.2:p.Leu295Gln
NM_001128425.2:c.968T>A MANE Plus Clinical	NP_001121897.1:p.Leu323Gln
NM_001048172.2:c.887T>A	NP_001041637.1:p.Leu296Gln
NM_001048173.2:c.884T>A	NP_001041638.1:p.Leu295Gln
NM_001048174.2:c.884T>A MANE Select	NP_001041639.1:p.Leu295Gln
NM_001293190.2:c.929T>A	NP_001280119.1:p.Leu310Gln
NM_001293191.2:c.917T>A	NP_001280120.1:p.Leu306Gln
NM_001293192.2:c.608T>A	NP_001280121.1:p.Leu203Gln
NM_001293195.2:c.884T>A	NP_001280124.1:p.Leu295Gln
NM_001293196.2:c.608T>A	NP_001280125.1:p.Leu203Gln
NM_001350650.2:c.539T>A	NP_001337579.1:p.Leu180Gln
NM_001350651.2:c.539T>A	NP_001337580.1:p.Leu180Gln
NM_012222.3:c.959T>A	NP_036354.1:p.Leu320Gln
NR_146882.2:n.1112T>A
NR_146883.2:n.961T>A

Linked Data

Genomic Alleles

Transcript Alleles