Canonical Allele Identifier: CA391298845

Gene: NIPA1

Linked Data

• gnomAD v4: 15-22786792-T-A
• MyVariant Identifiers: chr15:g.23086276A>T (hg19) ; chr15:g.22786792T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786792T>A , CM000677.2:g.22786792T>A	GRCh38
NC_000015.9:g.23086276A>T , CM000677.1:g.23086276A>T	GRCh37
NC_000015.8:g.20637717A>T	NCBI36
NG_009056.1:g.5568T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.136T>A MANE Select	ENSP00000337452.4:p.Phe46Ile
ENST00000337435.8:c.136T>A	ENSP00000337452.4:p.Phe46Ile
ENST00000437912.6:c.-48+12479T>A	ENSP00000393962.2:n.-48+12479T>A
ENST00000559448.5:c.26T>A
ENST00000560069.5:n.31+544T>A
ENST00000560105.1:n.35T>A
ENST00000561183.5:c.-48+544T>A	ENSP00000453722.1:n.-48+544T>A
NM_001142275.1:c.-48+544T>A	NP_001135747.1:n.-48+544T>A
NM_144599.4:c.136T>A	NP_653200.2:p.Phe46Ile
NM_144599.5:c.136T>A MANE Select	NP_653200.2:p.Phe46Ile