Canonical Allele Identifier: CA8329026

Gene: PITPNM3

Linked Data

• ClinVar Variation Id: 324742
• ClinVar RCV Id: RCV000283783 ; RCV003765882
• dbSNP Id: rs750289060
• ExAC: 17:6358837 A / C
• gnomAD v2: 17-6358837-A-C
• gnomAD v3: 17-6455517-A-C
• gnomAD v4: 17-6455517-A-C
• MyVariant Identifiers: chr17:g.6358837A>C (hg19) ; chr17:g.6455517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6455517A>C , CM000679.2:g.6455517A>C	GRCh38
NC_000017.10:g.6358837A>C , CM000679.1:g.6358837A>C	GRCh37
NC_000017.9:g.6299561A>C	NCBI36
NG_016020.1:g.106041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262483.13:c.2746T>G MANE Select	ENSP00000262483.8:p.Phe916Val
ENST00000262483.12:c.2746T>G	ENSP00000262483.8:p.Phe916Val
ENST00000421306.7:c.2638T>G	ENSP00000407882.3:p.Phe880Val
ENST00000572795.1:n.5252T>G
ENST00000576664.5:n.1495T>G
NM_001165966.1:c.2638T>G	NP_001159438.1:p.Phe880Val
NM_031220.3:c.2746T>G	NP_112497.2:p.Phe916Val
XM_011524014.1:c.2619+2077T>G	XP_011522316.1:n.2619+2077T>G
NM_031220.4:c.2746T>G MANE Select	NP_112497.2:p.Phe916Val
NM_001165966.2:c.2638T>G	NP_001159438.1:p.Phe880Val