Canonical Allele Identifier: CA8329171

Gene: PITPNM3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6461391C>T , CM000679.2:g.6461391C>T	GRCh38
NC_000017.10:g.6364711C>T , CM000679.1:g.6364711C>T	GRCh37
NC_000017.9:g.6305435C>T	NCBI36
NG_016020.1:g.100167G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031220.4:c.2472G>A MANE Select	NP_112497.2:p.Leu824=
ENST00000262483.13:c.2472G>A MANE Select	ENSP00000262483.8:p.Leu824=
NM_001165966.1:c.2364G>A	NP_001159438.1:p.Leu788=
NM_001165966.2:c.2364G>A	NP_001159438.1:p.Leu788=
NM_031220.3:c.2472G>A	NP_112497.2:p.Leu824=
ENST00000262483.12:c.2472G>A	ENSP00000262483.8:p.Leu824=
ENST00000421306.7:c.2364G>A	ENSP00000407882.3:p.Leu788=
ENST00000572795.1:n.4978G>A
ENST00000575201.2:c.316G>A
ENST00000576664.5:n.1221G>A
XM_011524014.1:c.2472G>A	XP_011522316.1:p.Leu824=
XM_011524015.1:c.2472G>A	XP_011522317.1:p.Leu824=
XM_011524015.3:c.2472G>A	XP_011522317.1:p.Leu824=