Canonical Allele Identifier: CA352791378

Gene: AMT NICN1

Linked Data

• MyVariant Identifiers: chr3:g.49459798G>C (hg19) ; chr3:g.49422365G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422365G>C , CM000665.2:g.49422365G>C	GRCh38
NC_000003.11:g.49459798G>C , CM000665.1:g.49459798G>C	GRCh37
NC_000003.10:g.49434802G>C	NCBI36
NG_015986.1:g.5314C>G , LRG_537:g.5314C>G
NG_033046.1:g.11960C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.86C>G (AMT) MANE Select	ENSP00000273588.3:p.Ala29Gly
ENST00000273598.8:c.*2468C>G (NICN1) MANE Select	ENSP00000273598.4:n.*2468C>G
ENST00000395338.7:c.86C>G (AMT)	ENSP00000378747.2:p.Ala29Gly
ENST00000399379.7:c.56C>G (AMT)	ENSP00000399943.2:p.Ala19Gly
ENST00000427987.6:c.-45C>G (AMT)	ENSP00000403821.2:n.-45C>G
ENST00000430521.2:c.86C>G (AMT)	ENSP00000388068.2:p.Ala29Gly
ENST00000462048.2:c.-102+74C>G (AMT)	ENSP00000490465.1:n.-102+74C>G
ENST00000465925.6:n.105C>G (AMT)
ENST00000473163.2:n.99C>G (AMT)
ENST00000476226.6:n.99C>G (AMT)
ENST00000478594.6:n.105C>G (AMT)
ENST00000480957.6:n.104C>G (AMT)
ENST00000485108.6:n.221-94C>G
ENST00000487589.6:n.13C>G (AMT)
ENST00000491800.3:n.108C>G (AMT)
ENST00000493046.6:n.94C>G (AMT)
ENST00000538581.6:c.-45C>G (AMT)	ENSP00000443200.2:n.-45C>G
ENST00000635772.1:n.90C>G (AMT)
ENST00000635808.1:c.86C>G (AMT)	ENSP00000489620.1:p.Ala29Gly
ENST00000635889.1:n.109C>G (AMT)
ENST00000636023.1:c.86C>G (AMT)	ENSP00000489969.1:p.Ala29Gly
ENST00000636070.1:c.86C>G (AMT)	ENSP00000490160.1:p.Ala29Gly
ENST00000636148.1:n.67C>G (AMT)
ENST00000636166.1:c.496-793C>G	ENSP00000490106.1:n.496-793C>G
ENST00000636199.1:c.86C>G (AMT)	ENSP00000490871.1:p.Ala29Gly
ENST00000636204.1:n.1279C>G
ENST00000636461.1:c.3109C>G
ENST00000636522.1:c.86C>G (AMT)	ENSP00000489758.1:p.Ala29Gly
ENST00000636587.1:n.229C>G (AMT)
ENST00000636597.1:c.86C>G (AMT)	ENSP00000490251.1:p.Ala29Gly
ENST00000636725.1:n.90C>G (AMT)
ENST00000636803.1:n.90C>G (AMT)
ENST00000636865.1:c.-45C>G (AMT)	ENSP00000490601.1:n.-45C>G
ENST00000636871.1:n.29C>G (AMT)
ENST00000636978.1:n.90C>G (AMT)
ENST00000636991.1:n.109C>G (AMT)
ENST00000637088.1:n.3552C>G
ENST00000637114.1:n.78C>G (AMT)
ENST00000637268.1:n.105C>G (AMT)
ENST00000637291.1:n.94C>G (AMT)
ENST00000637442.1:n.1492C>G
ENST00000637457.1:n.127C>G (AMT)
ENST00000637682.1:c.86C>G (AMT)	ENSP00000489856.1:p.Ala29Gly
ENST00000637684.1:n.99C>G (AMT)
ENST00000637821.1:c.86C>G (AMT)	ENSP00000490482.1:p.Ala29Gly
ENST00000637914.1:n.105C>G (AMT)
ENST00000637994.1:n.96C>G (AMT)
ENST00000638014.1:c.2778C>G
ENST00000638063.1:c.86C>G (AMT)	ENSP00000489760.1:p.Ala29Gly
ENST00000638079.1:c.*607-94C>G	ENSP00000490120.1:n.*607-94C>G
ENST00000638092.1:n.90C>G (AMT)
ENST00000638115.1:c.*1852-94C>G	ENSP00000490296.1:n.*1852-94C>G
ENST00000273588.7:c.86C>G (AMT)	ENSP00000273588.3:p.Ala29Gly
ENST00000395338.6:c.86C>G (AMT)	ENSP00000378747.2:p.Ala29Gly
ENST00000399379.6:c.86C>G (AMT)	ENSP00000399943.1:p.Ala29Gly
ENST00000427987.5:c.78C>G (AMT)
ENST00000430521.1:c.86C>G (AMT)	ENSP00000388068.1:p.Ala29Gly
ENST00000458307.6:c.86C>G (AMT)	ENSP00000415619.2:p.Ala29Gly
ENST00000462048.1:n.247+74C>G (AMT)
ENST00000476226.5:n.165C>G (AMT)
ENST00000478594.5:n.94C>G (AMT)
ENST00000480957.5:n.94C>G (AMT)
ENST00000485108.5:n.94C>G (AMT)
ENST00000487589.5:n.99C>G (AMT)
ENST00000493046.5:n.87C>G (AMT)
ENST00000495436.5:n.87C>G (AMT)
ENST00000498571.1:n.84C>G (AMT)
ENST00000538581.5:c.86C>G (AMT)	ENSP00000443200.1:p.Ala29Gly
NM_000481.3:c.86C>G , LRG_537t1:c.86C>G (AMT)	NP_000472.2:p.Ala29Gly
NM_001164710.1:c.86C>G (AMT)	NP_001158182.1:p.Ala29Gly
NM_001164711.1:c.86C>G (AMT)	NP_001158183.1:p.Ala29Gly
NM_001164712.1:c.86C>G (AMT)	NP_001158184.1:p.Ala29Gly
NM_032316.3:c.*2468C>G (NICN1) MANE Select	NP_115692.1:n.*2468C>G
NR_028435.1:n.314C>G (AMT)
NM_000481.4:c.86C>G (AMT) MANE Select	NP_000472.2:p.Ala29Gly
NM_001164710.2:c.86C>G (AMT)	NP_001158182.1:p.Ala29Gly
NM_001164711.2:c.86C>G (AMT)	NP_001158183.1:p.Ala29Gly
NM_001164712.2:c.86C>G (AMT)	NP_001158184.1:p.Ala29Gly
NR_028435.2:n.109C>G (AMT)