Canonical Allele Identifier: CA7426232

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 380931
• ClinVar RCV Id: RCV000531973 ; RCV001720074 ; RCV001848757
• dbSNP Id: rs749414711
• ExAC: 15:23086391 T / C
• gnomAD v2: 15-23086391-T-C
• gnomAD v3: 15-22786677-A-G
• gnomAD v4: 15-22786677-A-G
• MyVariant Identifiers: chr15:g.23086391T>C (hg19) ; chr15:g.22786677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786677A>G , CM000677.2:g.22786677A>G	GRCh38
NC_000015.9:g.23086391T>C , CM000677.1:g.23086391T>C	GRCh37
NC_000015.8:g.20637832T>C	NCBI36
NG_009056.1:g.5453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.21A>G MANE Select	ENSP00000337452.4:p.Ala7=
ENST00000337435.8:c.21A>G	ENSP00000337452.4:p.Ala7=
ENST00000437912.6:c.-48+12364A>G	ENSP00000393962.2:n.-48+12364A>G
ENST00000560069.5:n.31+429A>G
ENST00000561183.5:c.-48+429A>G	ENSP00000453722.1:n.-48+429A>G
NM_001142275.1:c.-48+429A>G	NP_001135747.1:n.-48+429A>G
NM_144599.4:c.21A>G	NP_653200.2:p.Ala7=
NM_144599.5:c.21A>G MANE Select	NP_653200.2:p.Ala7=