Canonical Allele Identifier: CA7426136

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 289458
• ClinVar RCV Id: RCV000616724 ; RCV000726331 ; RCV001087083 ; RCV001848069 ; RCV003940067
• dbSNP Id: rs139372534
• ExAC: 15:23060820 C / T
• gnomAD v2: 15-23060820-C-T
• gnomAD v3: 15-22812248-G-A
• gnomAD v4: 15-22812248-G-A
• MyVariant Identifiers: chr15:g.23060820C>T (hg19) ; chr15:g.22812248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22812248G>A , CM000677.2:g.22812248G>A	GRCh38
NC_000015.9:g.23060820C>T , CM000677.1:g.23060820C>T	GRCh37
NC_000015.8:g.20612261C>T	NCBI36
NG_009056.1:g.31024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.312G>A MANE Select	ENSP00000337452.4:p.Pro104=
ENST00000337435.8:c.312G>A	ENSP00000337452.4:p.Pro104=
ENST00000437912.6:c.87G>A	ENSP00000393962.2:p.Pro29=
ENST00000557930.1:c.156G>A	ENSP00000453797.1:p.Pro52=
ENST00000559448.5:c.202G>A
ENST00000560069.5:n.165G>A
ENST00000561183.5:c.87G>A	ENSP00000453722.1:p.Pro29=
NM_001142275.1:c.87G>A	NP_001135747.1:p.Pro29=
NM_144599.4:c.312G>A	NP_653200.2:p.Pro104=
NM_144599.5:c.312G>A MANE Select	NP_653200.2:p.Pro104=