Canonical Allele Identifier: CA352791544
Community Standard Title: NM_000481.4(AMT):c.2T>C (p.Met1Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49422449A>G , CM000665.2:g.49422449A>G GRCh38
NC_000003.11:g.49459882A>G , CM000665.1:g.49459882A>G GRCh37
NC_000003.10:g.49434886A>G NCBI36
NG_015986.1:g.5230T>C , LRG_537:g.5230T>C
NG_033046.1:g.11876T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000481.4:c.2T>C (AMT) MANE Select NP_000472.2:p.Met1Thr
NM_032316.3:c.*2384T>C (NICN1) MANE Select NP_115692.1:n.*2384T>C
ENST00000273588.9:c.2T>C (AMT) MANE Select ENSP00000273588.3:p.Met1Thr
ENST00000273598.8:c.*2384T>C (NICN1) MANE Select ENSP00000273598.4:n.*2384T>C
NM_000481.3:c.2T>C , LRG_537t1:c.2T>C (AMT) NP_000472.2:p.Met1Thr
NM_001164710.1:c.2T>C (AMT) NP_001158182.1:p.Met1Thr
NM_001164710.2:c.2T>C (AMT) NP_001158182.1:p.Met1Thr
NM_001164711.1:c.2T>C (AMT) NP_001158183.1:p.Met1Thr
NM_001164711.2:c.2T>C (AMT) NP_001158183.1:p.Met1Thr
NM_001164712.1:c.2T>C (AMT) NP_001158184.1:p.Met1Thr
NM_001164712.2:c.2T>C (AMT) NP_001158184.1:p.Met1Thr
NR_028435.1:n.230T>C (AMT)
NR_028435.2:n.25T>C (AMT)
ENST00000273588.7:c.2T>C (AMT) ENSP00000273588.3:p.Met1Thr
ENST00000395338.6:c.2T>C (AMT) ENSP00000378747.2:p.Met1Thr
ENST00000395338.7:c.2T>C (AMT) ENSP00000378747.2:p.Met1Thr
ENST00000399379.6:c.2T>C (AMT) ENSP00000399943.1:p.Met1Thr
ENST00000427987.6:c.-129T>C (AMT) ENSP00000403821.2:n.-129T>C
ENST00000430521.1:c.2T>C (AMT) ENSP00000388068.1:p.Met1Thr
ENST00000430521.2:c.2T>C (AMT) ENSP00000388068.2:p.Met1Thr
ENST00000458307.6:c.2T>C (AMT) ENSP00000415619.2:p.Met1Thr
ENST00000462048.1:n.237T>C (AMT)
ENST00000462048.2:c.-112T>C (AMT) ENSP00000490465.1:n.-112T>C
ENST00000465925.6:n.21T>C (AMT)
ENST00000473163.2:n.15T>C (AMT)
ENST00000476226.5:n.81T>C (AMT)
ENST00000476226.6:n.15T>C (AMT)
ENST00000478594.5:n.10T>C (AMT)
ENST00000478594.6:n.21T>C (AMT)
ENST00000480957.5:n.10T>C (AMT)
ENST00000480957.6:n.20T>C (AMT)
ENST00000485108.5:n.10T>C (AMT)
ENST00000485108.6:n.221-178T>C
ENST00000487589.5:n.15T>C (AMT)
ENST00000491800.3:n.24T>C (AMT)
ENST00000493046.5:n.3T>C (AMT)
ENST00000493046.6:n.10T>C (AMT)
ENST00000495436.5:n.3T>C (AMT)
ENST00000538581.5:c.2T>C (AMT) ENSP00000443200.1:p.Met1Thr
ENST00000538581.6:c.-129T>C (AMT) ENSP00000443200.2:n.-129T>C
ENST00000635772.1:n.6T>C (AMT)
ENST00000635808.1:c.2T>C (AMT) ENSP00000489620.1:p.Met1Thr
ENST00000635889.1:n.25T>C (AMT)
ENST00000636023.1:c.2T>C (AMT) ENSP00000489969.1:p.Met1Thr
ENST00000636070.1:c.2T>C (AMT) ENSP00000490160.1:p.Met1Thr
ENST00000636166.1:c.496-877T>C ENSP00000490106.1:n.496-877T>C
ENST00000636199.1:c.2T>C (AMT) ENSP00000490871.1:p.Met1Thr
ENST00000636204.1:n.1195T>C
ENST00000636461.1:c.3025T>C
ENST00000636522.1:c.2T>C (AMT) ENSP00000489758.1:p.Met1Thr
ENST00000636587.1:n.145T>C (AMT)
ENST00000636597.1:c.2T>C (AMT) ENSP00000490251.1:p.Met1Thr
ENST00000636725.1:n.6T>C (AMT)
ENST00000636803.1:n.6T>C (AMT)
ENST00000636865.1:c.-129T>C (AMT) ENSP00000490601.1:n.-129T>C
ENST00000636978.1:n.6T>C (AMT)
ENST00000636991.1:n.25T>C (AMT)
ENST00000637088.1:n.3468T>C
ENST00000637268.1:n.21T>C (AMT)
ENST00000637291.1:n.10T>C (AMT)
ENST00000637442.1:n.1408T>C
ENST00000637457.1:n.43T>C (AMT)
ENST00000637682.1:c.2T>C (AMT) ENSP00000489856.1:p.Met1Thr
ENST00000637684.1:n.15T>C (AMT)
ENST00000637821.1:c.2T>C (AMT) ENSP00000490482.1:p.Met1Thr
ENST00000637914.1:n.21T>C (AMT)
ENST00000637994.1:n.12T>C (AMT)
ENST00000638014.1:c.2694T>C
ENST00000638063.1:c.2T>C (AMT) ENSP00000489760.1:p.Met1Thr
ENST00000638079.1:c.*607-178T>C ENSP00000490120.1:n.*607-178T>C
ENST00000638092.1:n.6T>C (AMT)
ENST00000638115.1:c.*1852-178T>C ENSP00000490296.1:n.*1852-178T>C