Canonical Allele Identifier: CA10641470

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 315386
• ClinVar RCV Id: RCV000363629 ; RCV003221910
• dbSNP Id: rs746614226
• gnomAD v2: 15-23046759-T-G
• gnomAD v3: 15-22826309-A-C
• gnomAD v4: 15-22826309-A-C
• MyVariant Identifiers: chr15:g.23046759T>G (hg19) ; chr15:g.22826309A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22826309A>C , CM000677.2:g.22826309A>C	GRCh38
NC_000015.9:g.23046759T>G , CM000677.1:g.23046759T>G	GRCh37
NC_000015.8:g.20598200T>G	NCBI36
NG_009056.1:g.45085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.*2070A>C MANE Select	ENSP00000337452.4:n.*2070A>C
ENST00000337435.8:c.*2070A>C	ENSP00000337452.4:n.*2070A>C
ENST00000437912.6:c.*2070A>C	ENSP00000393962.2:n.*2070A>C
NM_001142275.1:c.*2070A>C	NP_001135747.1:n.*2070A>C
NM_144599.4:c.*2070A>C	NP_653200.2:n.*2070A>C
NM_144599.5:c.*2070A>C MANE Select	NP_653200.2:n.*2070A>C