Canonical Allele Identifier: CA352791411

Gene: AMT NICN1

Linked Data

• ClinVar Variation Id: 2007907
• ClinVar RCV Id: RCV002816456
• MyVariant Identifiers: chr3:g.49459814G>C (hg19) ; chr3:g.49422381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422381G>C , CM000665.2:g.49422381G>C	GRCh38
NC_000003.11:g.49459814G>C , CM000665.1:g.49459814G>C	GRCh37
NC_000003.10:g.49434818G>C	NCBI36
NG_015986.1:g.5298C>G , LRG_537:g.5298C>G
NG_033046.1:g.11944C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.70C>G (AMT) MANE Select	ENSP00000273588.3:p.Arg24Gly
ENST00000273598.8:c.*2452C>G (NICN1) MANE Select	ENSP00000273598.4:n.*2452C>G
ENST00000395338.7:c.70C>G (AMT)	ENSP00000378747.2:p.Arg24Gly
ENST00000399379.7:c.40C>G (AMT)	ENSP00000399943.2:p.Arg14Gly
ENST00000427987.6:c.-61C>G (AMT)	ENSP00000403821.2:n.-61C>G
ENST00000430521.2:c.70C>G (AMT)	ENSP00000388068.2:p.Arg24Gly
ENST00000462048.2:c.-102+58C>G (AMT)	ENSP00000490465.1:n.-102+58C>G
ENST00000465925.6:n.89C>G (AMT)
ENST00000473163.2:n.83C>G (AMT)
ENST00000476226.6:n.83C>G (AMT)
ENST00000478594.6:n.89C>G (AMT)
ENST00000480957.6:n.88C>G (AMT)
ENST00000485108.6:n.221-110C>G
ENST00000491800.3:n.92C>G (AMT)
ENST00000493046.6:n.78C>G (AMT)
ENST00000538581.6:c.-61C>G (AMT)	ENSP00000443200.2:n.-61C>G
ENST00000635772.1:n.74C>G (AMT)
ENST00000635808.1:c.70C>G (AMT)	ENSP00000489620.1:p.Arg24Gly
ENST00000635889.1:n.93C>G (AMT)
ENST00000636023.1:c.70C>G (AMT)	ENSP00000489969.1:p.Arg24Gly
ENST00000636070.1:c.70C>G (AMT)	ENSP00000490160.1:p.Arg24Gly
ENST00000636148.1:n.51C>G (AMT)
ENST00000636166.1:c.496-809C>G	ENSP00000490106.1:n.496-809C>G
ENST00000636199.1:c.70C>G (AMT)	ENSP00000490871.1:p.Arg24Gly
ENST00000636204.1:n.1263C>G
ENST00000636461.1:c.3093C>G
ENST00000636522.1:c.70C>G (AMT)	ENSP00000489758.1:p.Arg24Gly
ENST00000636587.1:n.213C>G (AMT)
ENST00000636597.1:c.70C>G (AMT)	ENSP00000490251.1:p.Arg24Gly
ENST00000636725.1:n.74C>G (AMT)
ENST00000636803.1:n.74C>G (AMT)
ENST00000636865.1:c.-61C>G (AMT)	ENSP00000490601.1:n.-61C>G
ENST00000636871.1:n.13C>G (AMT)
ENST00000636978.1:n.74C>G (AMT)
ENST00000636991.1:n.93C>G (AMT)
ENST00000637088.1:n.3536C>G
ENST00000637114.1:n.62C>G (AMT)
ENST00000637268.1:n.89C>G (AMT)
ENST00000637291.1:n.78C>G (AMT)
ENST00000637442.1:n.1476C>G
ENST00000637457.1:n.111C>G (AMT)
ENST00000637682.1:c.70C>G (AMT)	ENSP00000489856.1:p.Arg24Gly
ENST00000637684.1:n.83C>G (AMT)
ENST00000637821.1:c.70C>G (AMT)	ENSP00000490482.1:p.Arg24Gly
ENST00000637914.1:n.89C>G (AMT)
ENST00000637994.1:n.80C>G (AMT)
ENST00000638014.1:c.2762C>G
ENST00000638063.1:c.70C>G (AMT)	ENSP00000489760.1:p.Arg24Gly
ENST00000638079.1:c.*607-110C>G	ENSP00000490120.1:n.*607-110C>G
ENST00000638092.1:n.74C>G (AMT)
ENST00000638115.1:c.*1852-110C>G	ENSP00000490296.1:n.*1852-110C>G
ENST00000273588.7:c.70C>G (AMT)	ENSP00000273588.3:p.Arg24Gly
ENST00000395338.6:c.70C>G (AMT)	ENSP00000378747.2:p.Arg24Gly
ENST00000399379.6:c.70C>G (AMT)	ENSP00000399943.1:p.Arg24Gly
ENST00000427987.5:c.62C>G (AMT)
ENST00000430521.1:c.70C>G (AMT)	ENSP00000388068.1:p.Arg24Gly
ENST00000458307.6:c.70C>G (AMT)	ENSP00000415619.2:p.Arg24Gly
ENST00000462048.1:n.247+58C>G (AMT)
ENST00000476226.5:n.149C>G (AMT)
ENST00000478594.5:n.78C>G (AMT)
ENST00000480957.5:n.78C>G (AMT)
ENST00000485108.5:n.78C>G (AMT)
ENST00000487589.5:n.83C>G (AMT)
ENST00000493046.5:n.71C>G (AMT)
ENST00000495436.5:n.71C>G (AMT)
ENST00000498571.1:n.68C>G (AMT)
ENST00000538581.5:c.70C>G (AMT)	ENSP00000443200.1:p.Arg24Gly
NM_000481.3:c.70C>G , LRG_537t1:c.70C>G (AMT)	NP_000472.2:p.Arg24Gly
NM_001164710.1:c.70C>G (AMT)	NP_001158182.1:p.Arg24Gly
NM_001164711.1:c.70C>G (AMT)	NP_001158183.1:p.Arg24Gly
NM_001164712.1:c.70C>G (AMT)	NP_001158184.1:p.Arg24Gly
NM_032316.3:c.*2452C>G (NICN1) MANE Select	NP_115692.1:n.*2452C>G
NR_028435.1:n.298C>G (AMT)
NM_000481.4:c.70C>G (AMT) MANE Select	NP_000472.2:p.Arg24Gly
NM_001164710.2:c.70C>G (AMT)	NP_001158182.1:p.Arg24Gly
NM_001164711.2:c.70C>G (AMT)	NP_001158183.1:p.Arg24Gly
NM_001164712.2:c.70C>G (AMT)	NP_001158184.1:p.Arg24Gly
NR_028435.2:n.93C>G (AMT)