Canonical Allele Identifier: CA115593

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 2521
• ClinVar RCV Id: RCV000002629
• dbSNP Id: rs104894490
• MyVariant Identifiers: chr15:g.23060816C>G (hg19) ; chr15:g.22812252G>C (hg38)
• PubMed: PMID:15643603

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22812252G>C , CM000677.2:g.22812252G>C	GRCh38
NC_000015.9:g.23060816C>G , CM000677.1:g.23060816C>G	GRCh37
NC_000015.8:g.20612257C>G	NCBI36
NG_009056.1:g.31028G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337435.9:c.316G>C MANE Select	ENSP00000337452.4:p.Gly106Arg
ENST00000337435.8:c.316G>C	ENSP00000337452.4:p.Gly106Arg
ENST00000437912.6:c.91G>C	ENSP00000393962.2:p.Gly31Arg
ENST00000557930.1:c.160G>C	ENSP00000453797.1:p.Gly54Arg
ENST00000559448.5:c.206G>C
ENST00000560069.5:n.169G>C
ENST00000561183.5:c.91G>C	ENSP00000453722.1:p.Gly31Arg
NM_001142275.1:c.91G>C	NP_001135747.1:p.Gly31Arg
NM_144599.4:c.316G>C	NP_653200.2:p.Gly106Arg
NM_144599.5:c.316G>C MANE Select	NP_653200.2:p.Gly106Arg