Canonical Allele Identifier: CA2040636

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196844025G>A , CM000664.2:g.196844025G>A	GRCh38
NC_000002.11:g.197708749G>A , CM000664.1:g.197708749G>A	GRCh37
NC_000002.10:g.197416994G>A	NCBI36
NG_046780.1:g.87971C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024989.4:c.2388C>T MANE Select	NP_079265.2:p.Asp796=
ENST00000354764.9:c.2388C>T MANE Select	ENSP00000346809.3:p.Asp796=
NM_001321099.1:c.1866C>T	NP_001308028.1:p.Asp622=
NM_001321099.2:c.1866C>T	NP_001308028.1:p.Asp622=
NM_001321100.1:c.1221C>T	NP_001308029.1:p.Asp407=
NM_001321100.2:c.1221C>T	NP_001308029.1:p.Asp407=
NM_024989.3:c.2388C>T	NP_079265.2:p.Asp796=
ENST00000354764.8:c.2388C>T	ENSP00000346809.3:p.Asp796=
ENST00000422444.1:c.204C>T	ENSP00000390555.1:p.Asp68=
ENST00000423035.5:c.*2319C>T	ENSP00000415405.1:n.*2319C>T
ENST00000470179.5:n.2598C>T
XM_011511878.1:c.2388C>T	XP_011510180.1:p.Asp796=
XM_011511879.1:c.1866C>T	XP_011510181.1:p.Asp622=
XM_017004992.1:c.1866C>T	XP_016860481.1:p.Asp622=
XM_017004993.1:c.1866C>T	XP_016860482.1:p.Asp622=
XM_017004994.1:c.1221C>T	XP_016860483.1:p.Asp407=
XM_024453156.1:c.1221C>T	XP_024308924.1:p.Asp407=
XR_001738959.1:n.2673C>T