Canonical Allele Identifier: CA2041143

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196902733G>A , CM000664.2:g.196902733G>A	GRCh38
NC_000002.11:g.197767457G>A , CM000664.1:g.197767457G>A	GRCh37
NC_000002.10:g.197475702G>A	NCBI36
NG_046780.1:g.29263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.659C>T MANE Select	ENSP00000346809.3:p.Thr220Met
ENST00000354764.8:c.659C>T	ENSP00000346809.3:p.Thr220Met
ENST00000374738.3:c.148-4364C>T	ENSP00000363870.3:n.148-4364C>T
ENST00000409188.5:c.533C>T	ENSP00000386802.1:p.Thr178Met
ENST00000409475.5:c.659C>T	ENSP00000387028.1:p.Thr220Met
ENST00000423035.5:c.*590C>T	ENSP00000415405.1:n.*590C>T
ENST00000470179.5:n.272-4364C>T
ENST00000485830.1:n.803C>T
NM_024989.3:c.659C>T	NP_079265.2:p.Thr220Met
XM_011511878.1:c.659C>T	XP_011510180.1:p.Thr220Met
XM_011511879.1:c.137C>T	XP_011510181.1:p.Thr46Met
XM_011511880.1:c.659C>T	XP_011510182.1:p.Thr220Met
NM_001321099.1:c.137C>T	NP_001308028.1:p.Thr46Met
NM_001321100.1:c.-453C>T	NP_001308029.1:n.-453C>T
XM_017004992.1:c.137C>T	XP_016860481.1:p.Thr46Met
XM_017004993.1:c.137C>T	XP_016860482.1:p.Thr46Met
XM_017004994.1:c.-453C>T	XP_016860483.1:n.-453C>T
XM_024453156.1:c.-499C>T	XP_024308924.1:n.-499C>T
XR_001738959.1:n.1038C>T
XR_001738960.1:n.1038C>T
NM_024989.4:c.659C>T MANE Select	NP_079265.2:p.Thr220Met
NM_001321099.2:c.137C>T	NP_001308028.1:p.Thr46Met
NM_001321100.2:c.-453C>T	NP_001308029.1:n.-453C>T