Canonical Allele Identifier: CA290116497
Community Standard Title: NM_001346754.2(PIGW):c.1020C>T (p.Ala340=)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.36538121C>T , CM000679.2:g.36538121C>T GRCh38
NC_000017.9:g.31968083C>T NCBI36
NG_052004.1:g.8360C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001346754.2:c.1020C>T (PIGW) MANE Select NP_001333683.1:p.Ala340=
ENST00000614443.2:c.1020C>T (PIGW) MANE Select ENSP00000482202.1:p.Ala340=
NM_001346754.1:c.1020C>T (PIGW) NP_001333683.1:p.Ala340=
NM_001346755.1:c.1020C>T (PIGW) NP_001333684.1:p.Ala340=
NM_001346755.2:c.1020C>T (PIGW) NP_001333684.1:p.Ala340=
NM_178517.3:c.1020C>T (PIGW) NP_848612.2:p.Ala340=
NM_178517.4:c.1020C>T (PIGW) NP_848612.2:p.Ala340=
NM_178517.5:c.1020C>T (PIGW) NP_848612.2:p.Ala340=
ENST00000610496.1:n.395+3960G>A (MYO19)
ENST00000614443.1:c.1020C>T (PIGW) ENSP00000482202.1:p.Ala340=
ENST00000617167.1:n.164-2488G>A (MYO19)
ENST00000620233.1:c.1020C>T (PIGW) ENSP00000480021.1:p.Ala340=
XM_005257238.1:c.1020C>T (PIGW) XP_005257295.1:p.Ala340=
XM_011524646.1:c.1020C>T (PIGW) XP_011522948.1:p.Ala340=