Canonical Allele Identifier: CA8329721
Community Standard Title: NM_031220.4(PITPNM3):c.838G>A (p.Ala280Thr)
Gene: PITPNM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6478037C>T , CM000679.2:g.6478037C>T GRCh38
NC_000017.10:g.6381357C>T , CM000679.1:g.6381357C>T GRCh37
NC_000017.9:g.6322081C>T NCBI36
NG_016020.1:g.83521G>A

Transcript Alleles

HGVS Amino-acid Change
NM_031220.4:c.838G>A MANE Select NP_112497.2:p.Ala280Thr
ENST00000262483.13:c.838G>A MANE Select ENSP00000262483.8:p.Ala280Thr
NM_001165966.1:c.730G>A NP_001159438.1:p.Ala244Thr
NM_001165966.2:c.730G>A NP_001159438.1:p.Ala244Thr
NM_031220.3:c.838G>A NP_112497.2:p.Ala280Thr
ENST00000262483.12:c.838G>A ENSP00000262483.8:p.Ala280Thr
ENST00000421306.7:c.730G>A ENSP00000407882.3:p.Ala244Thr
ENST00000572795.1:n.3344G>A
XM_011524014.1:c.838G>A XP_011522316.1:p.Ala280Thr
XM_011524015.1:c.838G>A XP_011522317.1:p.Ala280Thr
XM_011524015.3:c.838G>A XP_011522317.1:p.Ala280Thr
XM_011524016.1:c.838G>A XP_011522318.1:p.Ala280Thr
XM_011524016.3:c.838G>A XP_011522318.1:p.Ala280Thr
XM_011524017.1:c.838G>A XP_011522319.1:p.Ala280Thr
XM_011524017.3:c.838G>A XP_011522319.1:p.Ala280Thr