Canonical Allele Identifier: CA11206380

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196913324G>T , CM000664.2:g.196913324G>T	GRCh38
NC_000002.11:g.197778048G>T , CM000664.1:g.197778048G>T	GRCh37
NC_000002.10:g.197486293G>T	NCBI36
NG_046780.1:g.18672C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024989.4:c.478-271C>A MANE Select	NP_079265.2:n.478-271C>A
ENST00000354764.9:c.478-271C>A MANE Select	ENSP00000346809.3:n.478-271C>A
NM_001321099.1:c.-45-271C>A	NP_001308028.1:n.-45-271C>A
NM_001321099.2:c.-45-271C>A	NP_001308028.1:n.-45-271C>A
NM_001321100.1:c.-634-271C>A	NP_001308029.1:n.-634-271C>A
NM_001321100.2:c.-634-271C>A	NP_001308029.1:n.-634-271C>A
NM_024989.3:c.478-271C>A	NP_079265.2:n.478-271C>A
ENST00000354764.8:c.478-271C>A	ENSP00000346809.3:n.478-271C>A
ENST00000374738.3:c.147+13146C>A	ENSP00000363870.3:n.147+13146C>A
ENST00000409188.5:c.352-271C>A	ENSP00000386802.1:n.352-271C>A
ENST00000409475.5:c.478-271C>A	ENSP00000387028.1:n.478-271C>A
ENST00000423035.5:c.*409-271C>A	ENSP00000415405.1:n.*409-271C>A
ENST00000470179.5:n.271+13146C>A
ENST00000485830.1:n.622-271C>A
XM_011511878.1:c.478-271C>A	XP_011510180.1:n.478-271C>A
XM_011511879.1:c.-45-271C>A	XP_011510181.1:n.-45-271C>A
XM_011511880.1:c.478-271C>A	XP_011510182.1:n.478-271C>A
XM_017004992.1:c.-45-271C>A	XP_016860481.1:n.-45-271C>A
XM_017004993.1:c.-45-271C>A	XP_016860482.1:n.-45-271C>A
XM_017004994.1:c.-634-271C>A	XP_016860483.1:n.-634-271C>A
XM_024453156.1:c.-680-271C>A	XP_024308924.1:n.-680-271C>A
XR_001738959.1:n.857-271C>A
XR_001738960.1:n.857-271C>A