Canonical Allele Identifier: CA399162910
Community Standard Title: NM_001346754.2(PIGW):c.547C>G (p.Leu183Val)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.36537648C>G , CM000679.2:g.36537648C>G GRCh38
NC_000017.9:g.31967610C>G NCBI36
NG_052004.1:g.7887C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001346754.2:c.547C>G (PIGW) MANE Select NP_001333683.1:p.Leu183Val
ENST00000614443.2:c.547C>G (PIGW) MANE Select ENSP00000482202.1:p.Leu183Val
NM_001346754.1:c.547C>G (PIGW) NP_001333683.1:p.Leu183Val
NM_001346755.1:c.547C>G (PIGW) NP_001333684.1:p.Leu183Val
NM_001346755.2:c.547C>G (PIGW) NP_001333684.1:p.Leu183Val
NM_178517.3:c.547C>G (PIGW) NP_848612.2:p.Leu183Val
NM_178517.4:c.547C>G (PIGW) NP_848612.2:p.Leu183Val
NM_178517.5:c.547C>G (PIGW) NP_848612.2:p.Leu183Val
ENST00000610496.1:n.396-3544G>C (MYO19)
ENST00000614443.1:c.547C>G (PIGW) ENSP00000482202.1:p.Leu183Val
ENST00000617167.1:n.164-2015G>C (MYO19)
ENST00000619326.1:c.547C>G (PIGW) ENSP00000480475.1:p.Leu183Val
ENST00000620233.1:c.547C>G (PIGW) ENSP00000480021.1:p.Leu183Val
XM_005257238.1:c.547C>G (PIGW) XP_005257295.1:p.Leu183Val
XM_011524646.1:c.547C>G (PIGW) XP_011522948.1:p.Leu183Val