Canonical Allele Identifier: CA8329330

Gene: PITPNM3

Linked Data

• ClinVar Variation Id: 324747
• ClinVar RCV Id: RCV000403462 ; RCV003765883
• dbSNP Id: rs370756871
• ExAC: 17:6368083 C / T
• gnomAD v2: 17-6368083-C-T
• gnomAD v3: 17-6464763-C-T
• gnomAD v4: 17-6464763-C-T
• MyVariant Identifiers: chr17:g.6368083C>T (hg19) ; chr17:g.6464763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6464763C>T , CM000679.2:g.6464763C>T	GRCh38
NC_000017.10:g.6368083C>T , CM000679.1:g.6368083C>T	GRCh37
NC_000017.9:g.6308807C>T	NCBI36
NG_016020.1:g.96795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262483.13:c.1899G>A MANE Select	ENSP00000262483.8:p.Thr633=
ENST00000262483.12:c.1899G>A	ENSP00000262483.8:p.Thr633=
ENST00000421306.7:c.1791G>A	ENSP00000407882.3:p.Thr597=
ENST00000572795.1:n.4405G>A
ENST00000576664.5:n.648G>A
NM_001165966.1:c.1791G>A	NP_001159438.1:p.Thr597=
NM_031220.3:c.1899G>A	NP_112497.2:p.Thr633=
XM_011524014.1:c.1899G>A	XP_011522316.1:p.Thr633=
XM_011524015.1:c.1899G>A	XP_011522317.1:p.Thr633=
XM_011524016.1:c.1899G>A	XP_011522318.1:p.Thr633=
XM_011524015.3:c.1899G>A	XP_011522317.1:p.Thr633=
XM_011524016.3:c.1899G>A	XP_011522318.1:p.Thr633=
NM_031220.4:c.1899G>A MANE Select	NP_112497.2:p.Thr633=
NM_001165966.2:c.1791G>A	NP_001159438.1:p.Thr597=