Canonical Allele Identifier: CA8329489

Gene: PITPNM3

Linked Data

• ClinVar Variation Id: 324752
• ClinVar RCV Id: RCV000357545 ; RCV000905439
• dbSNP Id: rs147943969
• ExAC: 17:6374628 G / A
• gnomAD v2: 17-6374628-G-A
• gnomAD v3: 17-6471308-G-A
• gnomAD v4: 17-6471308-G-A
• COSMIC: COSM1220681
• MyVariant Identifiers: chr17:g.6374628G>A (hg19) ; chr17:g.6471308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6471308G>A , CM000679.2:g.6471308G>A	GRCh38
NC_000017.10:g.6374628G>A , CM000679.1:g.6374628G>A	GRCh37
NC_000017.9:g.6315352G>A	NCBI36
NG_016020.1:g.90250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262483.13:c.1477C>T MANE Select	ENSP00000262483.8:p.Arg493Trp
ENST00000262483.12:c.1477C>T	ENSP00000262483.8:p.Arg493Trp
ENST00000421306.7:c.1369C>T	ENSP00000407882.3:p.Arg457Trp
ENST00000572795.1:n.3983C>T
ENST00000576664.5:n.226C>T
NM_001165966.1:c.1369C>T	NP_001159438.1:p.Arg457Trp
NM_031220.3:c.1477C>T	NP_112497.2:p.Arg493Trp
XM_011524014.1:c.1477C>T	XP_011522316.1:p.Arg493Trp
XM_011524015.1:c.1477C>T	XP_011522317.1:p.Arg493Trp
XM_011524016.1:c.1477C>T	XP_011522318.1:p.Arg493Trp
XM_011524017.1:c.1477C>T	XP_011522319.1:p.Arg493Trp
XM_011524015.3:c.1477C>T	XP_011522317.1:p.Arg493Trp
XM_011524016.3:c.1477C>T	XP_011522318.1:p.Arg493Trp
XM_011524017.3:c.1477C>T	XP_011522319.1:p.Arg493Trp
NM_031220.4:c.1477C>T MANE Select	NP_112497.2:p.Arg493Trp
NM_001165966.2:c.1369C>T	NP_001159438.1:p.Arg457Trp