Canonical Allele Identifier: CA2580093593

Gene: PIGW MYO19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.36537248T>C , CM000679.2:g.36537248T>C	GRCh38
NC_000017.9:g.31967210T>C	NCBI36
NG_052004.1:g.7487T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001346754.2:c.147T>C (PIGW) MANE Select	NP_001333683.1:p.Phe49=
ENST00000614443.2:c.147T>C (PIGW) MANE Select	ENSP00000482202.1:p.Phe49=
NM_001346754.1:c.147T>C (PIGW)	NP_001333683.1:p.Phe49=
NM_001346755.1:c.147T>C (PIGW)	NP_001333684.1:p.Phe49=
NM_001346755.2:c.147T>C (PIGW)	NP_001333684.1:p.Phe49=
NM_178517.3:c.147T>C (PIGW)	NP_848612.2:p.Phe49=
NM_178517.4:c.147T>C (PIGW)	NP_848612.2:p.Phe49=
NM_178517.5:c.147T>C (PIGW)	NP_848612.2:p.Phe49=
ENST00000610496.1:n.396-3144A>G (MYO19)
ENST00000614443.1:c.147T>C (PIGW)	ENSP00000482202.1:p.Phe49=
ENST00000617167.1:n.164-1615A>G (MYO19)
ENST00000619326.1:c.147T>C (PIGW)	ENSP00000480475.1:p.Phe49=
ENST00000620233.1:c.147T>C (PIGW)	ENSP00000480021.1:p.Phe49=
XM_005257238.1:c.147T>C (PIGW)	XP_005257295.1:p.Phe49=
XM_011524646.1:c.147T>C (PIGW)	XP_011522948.1:p.Phe49=