Canonical Allele Identifier: CA7426005

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 315423
• ClinVar RCV Id: RCV000338061 ; RCV003422263 ; RCV003930350
• dbSNP Id: rs199718530
• ExAC: 15:23049066 C / G
• gnomAD v2: 15-23049066-C-G
• gnomAD v3: 15-22824002-G-C
• gnomAD v4: 15-22824002-G-C
• MyVariant Identifiers: chr15:g.23049066C>G (hg19) ; chr15:g.22824002G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22824002G>C , CM000677.2:g.22824002G>C	GRCh38
NC_000015.9:g.23049066C>G , CM000677.1:g.23049066C>G	GRCh37
NC_000015.8:g.20600507C>G	NCBI36
NG_009056.1:g.42778G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.753G>C MANE Select	ENSP00000337452.4:p.Ala251=
ENST00000337435.8:c.753G>C	ENSP00000337452.4:p.Ala251=
ENST00000437912.6:c.528G>C	ENSP00000393962.2:p.Ala176=
ENST00000559448.5:c.725G>C
ENST00000561183.5:c.528G>C	ENSP00000453722.1:p.Ala176=
NM_001142275.1:c.528G>C	NP_001135747.1:p.Ala176=
NM_144599.4:c.753G>C	NP_653200.2:p.Ala251=
NM_144599.5:c.753G>C MANE Select	NP_653200.2:p.Ala251=