Canonical Allele Identifier: CA352791395

Gene: AMT NICN1

Linked Data

• gnomAD v4: 3-49422372-T-A
• MyVariant Identifiers: chr3:g.49459805T>A (hg19) ; chr3:g.49422372T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422372T>A , CM000665.2:g.49422372T>A	GRCh38
NC_000003.11:g.49459805T>A , CM000665.1:g.49459805T>A	GRCh37
NC_000003.10:g.49434809T>A	NCBI36
NG_015986.1:g.5307A>T , LRG_537:g.5307A>T
NG_033046.1:g.11953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.79A>T (AMT) MANE Select	ENSP00000273588.3:p.Ser27Cys
ENST00000273598.8:c.*2461A>T (NICN1) MANE Select	ENSP00000273598.4:n.*2461A>T
ENST00000395338.7:c.79A>T (AMT)	ENSP00000378747.2:p.Ser27Cys
ENST00000399379.7:c.49A>T (AMT)	ENSP00000399943.2:p.Ser17Cys
ENST00000427987.6:c.-52A>T (AMT)	ENSP00000403821.2:n.-52A>T
ENST00000430521.2:c.79A>T (AMT)	ENSP00000388068.2:p.Ser27Cys
ENST00000462048.2:c.-102+67A>T (AMT)	ENSP00000490465.1:n.-102+67A>T
ENST00000465925.6:n.98A>T (AMT)
ENST00000473163.2:n.92A>T (AMT)
ENST00000476226.6:n.92A>T (AMT)
ENST00000478594.6:n.98A>T (AMT)
ENST00000480957.6:n.97A>T (AMT)
ENST00000485108.6:n.221-101A>T
ENST00000487589.6:n.6A>T (AMT)
ENST00000491800.3:n.101A>T (AMT)
ENST00000493046.6:n.87A>T (AMT)
ENST00000538581.6:c.-52A>T (AMT)	ENSP00000443200.2:n.-52A>T
ENST00000635772.1:n.83A>T (AMT)
ENST00000635808.1:c.79A>T (AMT)	ENSP00000489620.1:p.Ser27Cys
ENST00000635889.1:n.102A>T (AMT)
ENST00000636023.1:c.79A>T (AMT)	ENSP00000489969.1:p.Ser27Cys
ENST00000636070.1:c.79A>T (AMT)	ENSP00000490160.1:p.Ser27Cys
ENST00000636148.1:n.60A>T (AMT)
ENST00000636166.1:c.496-800A>T	ENSP00000490106.1:n.496-800A>T
ENST00000636199.1:c.79A>T (AMT)	ENSP00000490871.1:p.Ser27Cys
ENST00000636204.1:n.1272A>T
ENST00000636461.1:c.3102A>T
ENST00000636522.1:c.79A>T (AMT)	ENSP00000489758.1:p.Ser27Cys
ENST00000636587.1:n.222A>T (AMT)
ENST00000636597.1:c.79A>T (AMT)	ENSP00000490251.1:p.Ser27Cys
ENST00000636725.1:n.83A>T (AMT)
ENST00000636803.1:n.83A>T (AMT)
ENST00000636865.1:c.-52A>T (AMT)	ENSP00000490601.1:n.-52A>T
ENST00000636871.1:n.22A>T (AMT)
ENST00000636978.1:n.83A>T (AMT)
ENST00000636991.1:n.102A>T (AMT)
ENST00000637088.1:n.3545A>T
ENST00000637114.1:n.71A>T (AMT)
ENST00000637268.1:n.98A>T (AMT)
ENST00000637291.1:n.87A>T (AMT)
ENST00000637442.1:n.1485A>T
ENST00000637457.1:n.120A>T (AMT)
ENST00000637682.1:c.79A>T (AMT)	ENSP00000489856.1:p.Ser27Cys
ENST00000637684.1:n.92A>T (AMT)
ENST00000637821.1:c.79A>T (AMT)	ENSP00000490482.1:p.Ser27Cys
ENST00000637914.1:n.98A>T (AMT)
ENST00000637994.1:n.89A>T (AMT)
ENST00000638014.1:c.2771A>T
ENST00000638063.1:c.79A>T (AMT)	ENSP00000489760.1:p.Ser27Cys
ENST00000638079.1:c.*607-101A>T	ENSP00000490120.1:n.*607-101A>T
ENST00000638092.1:n.83A>T (AMT)
ENST00000638115.1:c.*1852-101A>T	ENSP00000490296.1:n.*1852-101A>T
ENST00000273588.7:c.79A>T (AMT)	ENSP00000273588.3:p.Ser27Cys
ENST00000395338.6:c.79A>T (AMT)	ENSP00000378747.2:p.Ser27Cys
ENST00000399379.6:c.79A>T (AMT)	ENSP00000399943.1:p.Ser27Cys
ENST00000427987.5:c.71A>T (AMT)
ENST00000430521.1:c.79A>T (AMT)	ENSP00000388068.1:p.Ser27Cys
ENST00000458307.6:c.79A>T (AMT)	ENSP00000415619.2:p.Ser27Cys
ENST00000462048.1:n.247+67A>T (AMT)
ENST00000476226.5:n.158A>T (AMT)
ENST00000478594.5:n.87A>T (AMT)
ENST00000480957.5:n.87A>T (AMT)
ENST00000485108.5:n.87A>T (AMT)
ENST00000487589.5:n.92A>T (AMT)
ENST00000493046.5:n.80A>T (AMT)
ENST00000495436.5:n.80A>T (AMT)
ENST00000498571.1:n.77A>T (AMT)
ENST00000538581.5:c.79A>T (AMT)	ENSP00000443200.1:p.Ser27Cys
NM_000481.3:c.79A>T , LRG_537t1:c.79A>T (AMT)	NP_000472.2:p.Ser27Cys
NM_001164710.1:c.79A>T (AMT)	NP_001158182.1:p.Ser27Cys
NM_001164711.1:c.79A>T (AMT)	NP_001158183.1:p.Ser27Cys
NM_001164712.1:c.79A>T (AMT)	NP_001158184.1:p.Ser27Cys
NM_032316.3:c.*2461A>T (NICN1) MANE Select	NP_115692.1:n.*2461A>T
NR_028435.1:n.307A>T (AMT)
NM_000481.4:c.79A>T (AMT) MANE Select	NP_000472.2:p.Ser27Cys
NM_001164710.2:c.79A>T (AMT)	NP_001158182.1:p.Ser27Cys
NM_001164711.2:c.79A>T (AMT)	NP_001158183.1:p.Ser27Cys
NM_001164712.2:c.79A>T (AMT)	NP_001158184.1:p.Ser27Cys
NR_028435.2:n.102A>T (AMT)