Canonical Allele Identifier: CA267581019

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 447766
• ClinVar RCV Id: RCV000517000 ; RCV002527497
• dbSNP Id: rs944860201
• gnomAD v2: 15-23086395-G-C
• gnomAD v3: 15-22786673-C-G
• gnomAD v4: 15-22786673-C-G
• MyVariant Identifiers: chr15:g.23086395G>C (hg19) ; chr15:g.22786673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786673C>G , CM000677.2:g.22786673C>G	GRCh38
NC_000015.9:g.23086395G>C , CM000677.1:g.23086395G>C	GRCh37
NC_000015.8:g.20637836G>C	NCBI36
NG_009056.1:g.5449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.17C>G MANE Select	ENSP00000337452.4:p.Ala6Gly
ENST00000337435.8:c.17C>G	ENSP00000337452.4:p.Ala6Gly
ENST00000437912.6:c.-48+12360C>G	ENSP00000393962.2:n.-48+12360C>G
ENST00000560069.5:n.31+425C>G
ENST00000561183.5:c.-48+425C>G	ENSP00000453722.1:n.-48+425C>G
NM_001142275.1:c.-48+425C>G	NP_001135747.1:n.-48+425C>G
NM_144599.4:c.17C>G	NP_653200.2:p.Ala6Gly
NM_144599.5:c.17C>G MANE Select	NP_653200.2:p.Ala6Gly