Canonical Allele Identifier: CA2398504

Gene: AMT NICN1

Linked Data

• ClinVar Variation Id: 1474058
• ClinVar RCV Id: RCV001969687
• dbSNP Id: rs778523705
• ExAC: 3:49459832 A / G
• gnomAD v2: 3-49459832-A-G
• gnomAD v3: 3-49422399-A-G
• gnomAD v4: 3-49422399-A-G
• MyVariant Identifiers: chr3:g.49459832A>G (hg19) ; chr3:g.49422399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422399A>G , CM000665.2:g.49422399A>G	GRCh38
NC_000003.11:g.49459832A>G , CM000665.1:g.49459832A>G	GRCh37
NC_000003.10:g.49434836A>G	NCBI36
NG_015986.1:g.5280T>C , LRG_537:g.5280T>C
NG_033046.1:g.11926T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.52T>C (AMT) MANE Select	ENSP00000273588.3:p.Phe18Leu
ENST00000273598.8:c.*2434T>C (NICN1) MANE Select	ENSP00000273598.4:n.*2434T>C
ENST00000395338.7:c.52T>C (AMT)	ENSP00000378747.2:p.Phe18Leu
ENST00000399379.7:c.22T>C (AMT)	ENSP00000399943.2:p.Phe8Leu
ENST00000427987.6:c.-79T>C (AMT)	ENSP00000403821.2:n.-79T>C
ENST00000430521.2:c.52T>C (AMT)	ENSP00000388068.2:p.Phe18Leu
ENST00000462048.2:c.-102+40T>C (AMT)	ENSP00000490465.1:n.-102+40T>C
ENST00000465925.6:n.71T>C (AMT)
ENST00000473163.2:n.65T>C (AMT)
ENST00000476226.6:n.65T>C (AMT)
ENST00000478594.6:n.71T>C (AMT)
ENST00000480957.6:n.70T>C (AMT)
ENST00000485108.6:n.221-128T>C
ENST00000491800.3:n.74T>C (AMT)
ENST00000493046.6:n.60T>C (AMT)
ENST00000538581.6:c.-79T>C (AMT)	ENSP00000443200.2:n.-79T>C
ENST00000635772.1:n.56T>C (AMT)
ENST00000635808.1:c.52T>C (AMT)	ENSP00000489620.1:p.Phe18Leu
ENST00000635889.1:n.75T>C (AMT)
ENST00000636023.1:c.52T>C (AMT)	ENSP00000489969.1:p.Phe18Leu
ENST00000636070.1:c.52T>C (AMT)	ENSP00000490160.1:p.Phe18Leu
ENST00000636148.1:n.33T>C (AMT)
ENST00000636166.1:c.496-827T>C	ENSP00000490106.1:n.496-827T>C
ENST00000636199.1:c.52T>C (AMT)	ENSP00000490871.1:p.Phe18Leu
ENST00000636204.1:n.1245T>C
ENST00000636461.1:c.3075T>C
ENST00000636522.1:c.52T>C (AMT)	ENSP00000489758.1:p.Phe18Leu
ENST00000636587.1:n.195T>C (AMT)
ENST00000636597.1:c.52T>C (AMT)	ENSP00000490251.1:p.Phe18Leu
ENST00000636725.1:n.56T>C (AMT)
ENST00000636803.1:n.56T>C (AMT)
ENST00000636865.1:c.-79T>C (AMT)	ENSP00000490601.1:n.-79T>C
ENST00000636978.1:n.56T>C (AMT)
ENST00000636991.1:n.75T>C (AMT)
ENST00000637088.1:n.3518T>C
ENST00000637114.1:n.44T>C (AMT)
ENST00000637268.1:n.71T>C (AMT)
ENST00000637291.1:n.60T>C (AMT)
ENST00000637442.1:n.1458T>C
ENST00000637457.1:n.93T>C (AMT)
ENST00000637682.1:c.52T>C (AMT)	ENSP00000489856.1:p.Phe18Leu
ENST00000637684.1:n.65T>C (AMT)
ENST00000637821.1:c.52T>C (AMT)	ENSP00000490482.1:p.Phe18Leu
ENST00000637914.1:n.71T>C (AMT)
ENST00000637994.1:n.62T>C (AMT)
ENST00000638014.1:c.2744T>C
ENST00000638063.1:c.52T>C (AMT)	ENSP00000489760.1:p.Phe18Leu
ENST00000638079.1:c.*607-128T>C	ENSP00000490120.1:n.*607-128T>C
ENST00000638092.1:n.56T>C (AMT)
ENST00000638115.1:c.*1852-128T>C	ENSP00000490296.1:n.*1852-128T>C
ENST00000273588.7:c.52T>C (AMT)	ENSP00000273588.3:p.Phe18Leu
ENST00000395338.6:c.52T>C (AMT)	ENSP00000378747.2:p.Phe18Leu
ENST00000399379.6:c.52T>C (AMT)	ENSP00000399943.1:p.Phe18Leu
ENST00000427987.5:c.44T>C (AMT)
ENST00000430521.1:c.52T>C (AMT)	ENSP00000388068.1:p.Phe18Leu
ENST00000458307.6:c.52T>C (AMT)	ENSP00000415619.2:p.Phe18Leu
ENST00000462048.1:n.247+40T>C (AMT)
ENST00000476226.5:n.131T>C (AMT)
ENST00000478594.5:n.60T>C (AMT)
ENST00000480957.5:n.60T>C (AMT)
ENST00000485108.5:n.60T>C (AMT)
ENST00000487589.5:n.65T>C (AMT)
ENST00000493046.5:n.53T>C (AMT)
ENST00000495436.5:n.53T>C (AMT)
ENST00000498571.1:n.50T>C (AMT)
ENST00000538581.5:c.52T>C (AMT)	ENSP00000443200.1:p.Phe18Leu
NM_000481.3:c.52T>C , LRG_537t1:c.52T>C (AMT)	NP_000472.2:p.Phe18Leu
NM_001164710.1:c.52T>C (AMT)	NP_001158182.1:p.Phe18Leu
NM_001164711.1:c.52T>C (AMT)	NP_001158183.1:p.Phe18Leu
NM_001164712.1:c.52T>C (AMT)	NP_001158184.1:p.Phe18Leu
NM_032316.3:c.*2434T>C (NICN1) MANE Select	NP_115692.1:n.*2434T>C
NR_028435.1:n.280T>C (AMT)
NM_000481.4:c.52T>C (AMT) MANE Select	NP_000472.2:p.Phe18Leu
NM_001164710.2:c.52T>C (AMT)	NP_001158182.1:p.Phe18Leu
NM_001164711.2:c.52T>C (AMT)	NP_001158183.1:p.Phe18Leu
NM_001164712.2:c.52T>C (AMT)	NP_001158184.1:p.Phe18Leu
NR_028435.2:n.75T>C (AMT)