Canonical Allele Identifier: CA2576239123
Community Standard Title: NM_001346754.2(PIGW):c.1514G>A (p.Ter505=)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.36538615G>A , CM000679.2:g.36538615G>A GRCh38
NC_000017.9:g.31968577G>A NCBI36
NG_052004.1:g.8854G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001346754.2:c.1514G>A (PIGW) MANE Select NP_001333683.1:p.Ter505=
ENST00000614443.2:c.1514G>A (PIGW) MANE Select ENSP00000482202.1:p.Ter505=
NM_001346754.1:c.1514G>A (PIGW) NP_001333683.1:p.Ter505=
NM_001346755.1:c.1514G>A (PIGW) NP_001333684.1:p.Ter505=
NM_001346755.2:c.1514G>A (PIGW) NP_001333684.1:p.Ter505=
NM_178517.3:c.1514G>A (PIGW) NP_848612.2:p.Ter505=
NM_178517.4:c.1514G>A (PIGW) NP_848612.2:p.Ter505=
NM_178517.5:c.1514G>A (PIGW) NP_848612.2:p.Ter505=
ENST00000610496.1:n.395+3466C>T (MYO19)
ENST00000614443.1:c.1514G>A (PIGW) ENSP00000482202.1:p.Ter505=
ENST00000617167.1:n.164-2982C>T (MYO19)
ENST00000620233.1:c.1514G>A (PIGW) ENSP00000480021.1:p.Ter505=
XM_005257238.1:c.1514G>A (PIGW) XP_005257295.1:p.Ter505=
XM_011524646.1:c.1514G>A (PIGW) XP_011522948.1:p.Ter505=