Canonical Allele Identifier: CA7918120
Gene: NPIPA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 254123
ClinVar RCV Id: RCV000240033
dbSNP Id: rs886037884
ExAC: 16:15457607 G / A
gnomAD v2: 16-15457607-G-A
gnomAD v3: 16-15363750-G-A
gnomAD v4: 16-15363750-G-A
COSMIC: COSM3678565 COSM3678566
MyVariant Identifiers: chr16:g.15457607G>A (hg19) chr16:g.15457607_15457676delinsAGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGCAGGTGTCTTGAGATTATCATCCGCTGAGGGTA (hg19) chr16:g.15363750G>A (hg38) chr16:g.15363750_15363819delinsAGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGCAGGTGTCTTGAGATTATCATCCGCTGAGGGTA (hg38)
PubMed: PMID:28299356
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15363750G>A , CM000678.2:g.15363750G>A GRCh38
NC_000016.9:g.15457607G>A , CM000678.1:g.15457607G>A GRCh37
NC_000016.8:g.15365108G>A NCBI36
NG_054723.1:g.22729C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360151.9:c.962C>T MANE Select ENSP00000433597.1:p.Pro321Leu
ENST00000360151.8:c.962C>T ENSP00000433597.1:p.Pro321Leu
NM_001277325.1:c.962C>T NP_001264254.1:p.Pro321Leu
XR_933122.1:n.168+1080G>A
XR_933123.1:n.168+1080G>A
XR_933124.1:n.168+1080G>A
NM_001351200.1:c.1032C>T NP_001338129.1:n.1032C>T
XM_024450132.1:c.1019C>T XP_024305900.1:p.Pro340Leu
XR_933122.2:n.168+1080G>A
XR_933124.3:n.168+1080G>A
NM_001277325.2:c.962C>T MANE Select NP_001264254.1:p.Pro321Leu
Search 100 bp 5'
Search 100 bp 3'