Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014127T>A , CM000672.2:g.89014127T>A	GRCh38
NC_000010.10:g.90773884T>A , CM000672.1:g.90773884T>A	GRCh37
NC_000010.9:g.90763864T>A	NCBI36
NG_009089.2:g.28597T>A , LRG_134:g.28597T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.994T>A
ENST00000355740.8:c.*8T>A	ENSP00000347979.3:n.*8T>A
ENST00000357339.7:c.622T>A	ENSP00000349896.2:p.Leu208Met
ENST00000371857.8:n.2230T>A
ENST00000460510.6:c.-33T>A	ENSP00000512812.1:n.-33T>A
ENST00000466081.6:n.2334T>A
ENST00000477270.6:c.730T>A	ENSP00000512813.1:p.Leu244Met
ENST00000479522.6:c.*114T>A	ENSP00000424113.1:n.*114T>A
ENST00000484444.6:c.*126T>A	ENSP00000420975.1:n.*126T>A
ENST00000488877.6:c.576T>A	ENSP00000425159.1:n.576T>A
ENST00000492756.7:c.*114T>A	ENSP00000422453.1:n.*114T>A
ENST00000494799.6:c.-33T>A	ENSP00000512834.1:n.-33T>A
ENST00000562983.3:c.-33T>A	ENSP00000512845.1:n.-33T>A
ENST00000612663.6:c.*87T>A	ENSP00000477997.3:n.*87T>A
ENST00000640140.2:n.830T>A
ENST00000640250.2:n.184T>A
ENST00000640681.2:n.789T>A
ENST00000696723.1:n.4318T>A
ENST00000696741.1:n.2323T>A
ENST00000696742.1:n.2050T>A
ENST00000696743.1:n.3453T>A
ENST00000696744.1:n.724T>A
ENST00000696767.1:n.1019T>A
ENST00000696768.1:c.*8T>A	ENSP00000512859.1:n.*8T>A
ENST00000696769.1:n.2374T>A
ENST00000696771.1:c.-33T>A	ENSP00000512860.1:n.-33T>A
ENST00000696772.1:n.2288T>A
ENST00000696773.1:n.2027T>A
ENST00000696774.1:n.5795T>A
ENST00000696776.1:c.778T>A	ENSP00000512861.1:p.Leu260Met
ENST00000696777.1:n.2093T>A
ENST00000696778.1:n.1121T>A
ENST00000696779.1:c.292T>A	ENSP00000512862.1:p.Leu98Met
ENST00000696780.1:c.715T>A	ENSP00000512863.1:p.Leu239Met
ENST00000696781.1:c.430T>A	ENSP00000512864.1:p.Leu144Met
ENST00000696782.1:c.*87T>A	ENSP00000512865.1:n.*87T>A
ENST00000696783.1:n.2553T>A
ENST00000696992.1:n.1802T>A
ENST00000696995.1:n.4214T>A
ENST00000696996.1:n.2127T>A
ENST00000696997.1:c.*315T>A	ENSP00000513028.1:n.*315T>A
ENST00000696998.1:n.1939T>A
ENST00000696999.1:c.-33T>A	ENSP00000513029.1:n.-33T>A
ENST00000697035.1:c.*18T>A	ENSP00000513059.1:n.*18T>A
ENST00000697036.1:c.*101T>A	ENSP00000513060.1:n.*101T>A
ENST00000697037.1:n.720T>A
ENST00000697093.1:n.2921T>A
ENST00000697094.1:n.3268T>A
ENST00000697095.1:c.*1886T>A	ENSP00000513104.1:n.*1886T>A
ENST00000697096.1:n.1818T>A
ENST00000697097.1:c.-33T>A	ENSP00000513105.1:n.-33T>A
ENST00000562983.2:n.871T>A
ENST00000690268.1:c.766T>A	ENSP00000509810.1:p.Leu256Met
ENST00000355740.7:c.*11T>A	ENSP00000347979.3:n.*11T>A
ENST00000612663.5:c.*87T>A	ENSP00000477997.3:n.*87T>A
ENST00000640140.1:n.857T>A
ENST00000640250.1:n.184T>A
ENST00000640681.1:n.806T>A
ENST00000652046.1:c.685T>A MANE Select	ENSP00000498466.1:p.Leu229Met
ENST00000313771.9:n.994T>A
ENST00000352159.8:c.*2T>A	ENSP00000345601.4:n.*2T>A
ENST00000355279.2:c.660T>A	ENSP00000347426.2:p.Thr220=
ENST00000355740.6:c.685T>A	ENSP00000347979.2:p.Leu229Met
ENST00000357339.6:c.622T>A	ENSP00000349896.2:p.Leu208Met
ENST00000479522.5:c.*114T>A	ENSP00000424113.1:n.*114T>A
ENST00000484444.5:c.*126T>A	ENSP00000420975.1:n.*126T>A
ENST00000488877.5:c.*126T>A	ENSP00000425159.1:n.*126T>A
ENST00000492756.5:c.513T>A	ENSP00000422453.1:n.513T>A
ENST00000494410.5:c.*43T>A	ENSP00000423755.1:n.*43T>A
ENST00000494799.5:n.592T>A
ENST00000612663.4:c.*32T>A	ENSP00000477997.2:n.*32T>A
ENST00000615406.4:c.685T>A	ENSP00000484575.1:p.Leu229Met
ENST00000626542.2:c.685T>A	ENSP00000485876.1:p.Leu229Met
NM_000043.4:c.685T>A , LRG_134t1:c.685T>A	NP_000034.1:p.Leu229Met
NM_152871.2:c.622T>A	NP_690610.1:p.Leu208Met
NM_152872.2:c.660T>A	NP_690611.1:p.Thr220=
NR_028033.2:n.859T>A
NR_028034.2:n.721T>A
NR_028035.2:n.784T>A
NR_028036.2:n.922T>A
XM_006717819.2:c.766T>A	XP_006717882.1:p.Leu256Met
XM_011539764.1:c.847T>A	XP_011538066.1:p.Leu283Met
XM_011539765.1:c.784T>A	XP_011538067.1:p.Leu262Met
XM_011539766.1:c.766T>A	XP_011538068.1:p.Leu256Met
XM_011539767.1:c.730T>A	XP_011538069.1:p.Leu244Met
XR_945732.1:n.753T>A
XR_945733.1:n.690T>A
NM_000043.5:c.685T>A	NP_000034.1:p.Leu229Met
NM_001320619.1:c.*8T>A	NP_001307548.1:n.*8T>A
NM_152871.3:c.622T>A	NP_690610.1:p.Leu208Met
NM_152872.3:c.660T>A	NP_690611.1:p.Thr220=
NR_028033.3:n.831T>A
NR_028034.3:n.693T>A
NR_028035.3:n.756T>A
NR_028036.3:n.894T>A
NR_135313.1:n.811T>A
NR_135314.1:n.994T>A
NR_135315.1:n.747T>A
XM_006717819.3:c.766T>A	XP_006717882.1:p.Leu256Met
XM_011539764.2:c.847T>A	XP_011538066.1:p.Leu283Met
XM_011539765.2:c.784T>A	XP_011538067.1:p.Leu262Met
XM_011539766.2:c.766T>A	XP_011538068.1:p.Leu256Met
XM_011539767.3:c.730T>A	XP_011538069.1:p.Leu244Met
XR_945732.3:n.753T>A
XR_945733.2:n.690T>A
NM_000043.6:c.685T>A MANE Select	NP_000034.1:p.Leu229Met
NM_001320619.2:c.*8T>A	NP_001307548.1:n.*8T>A
NM_152871.4:c.622T>A	NP_690610.1:p.Leu208Met
NM_152872.4:c.660T>A	NP_690611.1:p.Thr220=
NR_028033.4:n.592T>A
NR_028034.4:n.454T>A
NR_028035.4:n.517T>A
NR_028036.4:n.655T>A
NR_135313.2:n.572T>A
NR_135314.2:n.851T>A
NR_135315.2:n.604T>A

Linked Data

Genomic Alleles

Transcript Alleles