Canonical Allele Identifier: CA399164567

Gene: PIGW MYO19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.36538350C>G , CM000679.2:g.36538350C>G	GRCh38
NC_000017.9:g.31968312C>G	NCBI36
NG_052004.1:g.8589C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001346754.2:c.1249C>G (PIGW) MANE Select	NP_001333683.1:p.Pro417Ala
ENST00000614443.2:c.1249C>G (PIGW) MANE Select	ENSP00000482202.1:p.Pro417Ala
NM_001346754.1:c.1249C>G (PIGW)	NP_001333683.1:p.Pro417Ala
NM_001346755.1:c.1249C>G (PIGW)	NP_001333684.1:p.Pro417Ala
NM_001346755.2:c.1249C>G (PIGW)	NP_001333684.1:p.Pro417Ala
NM_178517.3:c.1249C>G (PIGW)	NP_848612.2:p.Pro417Ala
NM_178517.4:c.1249C>G (PIGW)	NP_848612.2:p.Pro417Ala
NM_178517.5:c.1249C>G (PIGW)	NP_848612.2:p.Pro417Ala
ENST00000610496.1:n.395+3731G>C (MYO19)
ENST00000614443.1:c.1249C>G (PIGW)	ENSP00000482202.1:p.Pro417Ala
ENST00000617167.1:n.164-2717G>C (MYO19)
ENST00000620233.1:c.1249C>G (PIGW)	ENSP00000480021.1:p.Pro417Ala
XM_005257238.1:c.1249C>G (PIGW)	XP_005257295.1:p.Pro417Ala
XM_011524646.1:c.1249C>G (PIGW)	XP_011522948.1:p.Pro417Ala