Canonical Allele Identifier: CA10645601

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 315338
• ClinVar RCV Id: RCV000400975 ; RCV003422261
• dbSNP Id: rs569739849
• gnomAD v2: 15-23043644-G-A
• gnomAD v3: 15-22829424-C-T
• gnomAD v4: 15-22829424-C-T
• MyVariant Identifiers: chr15:g.23043644G>A (hg19) ; chr15:g.22829424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22829424C>T , CM000677.2:g.22829424C>T	GRCh38
NC_000015.9:g.23043644G>A , CM000677.1:g.23043644G>A	GRCh37
NC_000015.8:g.20595085G>A	NCBI36
NG_009056.1:g.48200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.*5185C>T MANE Select	ENSP00000337452.4:n.*5185C>T
ENST00000337435.8:c.*5185C>T	ENSP00000337452.4:n.*5185C>T
ENST00000437912.6:c.*5185C>T	ENSP00000393962.2:n.*5185C>T
NM_001142275.1:c.*5185C>T	NP_001135747.1:n.*5185C>T
NM_144599.4:c.*5185C>T	NP_653200.2:n.*5185C>T
NM_144599.5:c.*5185C>T MANE Select	NP_653200.2:n.*5185C>T