Canonical Allele Identifier: CA430547665

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196913039A>C , CM000664.2:g.196913039A>C	GRCh38
NC_000002.11:g.197777763A>C , CM000664.1:g.197777763A>C	GRCh37
NC_000002.10:g.197486008A>C	NCBI36
NG_046780.1:g.18957T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024989.4:c.492T>G MANE Select	NP_079265.2:p.Ala164=
ENST00000354764.9:c.492T>G MANE Select	ENSP00000346809.3:p.Ala164=
NM_001321099.1:c.-31T>G	NP_001308028.1:n.-31T>G
NM_001321099.2:c.-31T>G	NP_001308028.1:n.-31T>G
NM_001321100.1:c.-620T>G	NP_001308029.1:n.-620T>G
NM_001321100.2:c.-620T>G	NP_001308029.1:n.-620T>G
NM_024989.3:c.492T>G	NP_079265.2:p.Ala164=
ENST00000354764.8:c.492T>G	ENSP00000346809.3:p.Ala164=
ENST00000374738.3:c.147+13431T>G	ENSP00000363870.3:n.147+13431T>G
ENST00000409188.5:c.366T>G	ENSP00000386802.1:p.Ala122=
ENST00000409475.5:c.492T>G	ENSP00000387028.1:p.Ala164=
ENST00000423035.5:c.*423T>G	ENSP00000415405.1:n.*423T>G
ENST00000470179.5:n.271+13431T>G
ENST00000485830.1:n.636T>G
XM_011511878.1:c.492T>G	XP_011510180.1:p.Ala164=
XM_011511879.1:c.-31T>G	XP_011510181.1:n.-31T>G
XM_011511880.1:c.492T>G	XP_011510182.1:p.Ala164=
XM_017004992.1:c.-31T>G	XP_016860481.1:n.-31T>G
XM_017004993.1:c.-31T>G	XP_016860482.1:n.-31T>G
XM_017004994.1:c.-620T>G	XP_016860483.1:n.-620T>G
XM_024453156.1:c.-666T>G	XP_024308924.1:n.-666T>G
XR_001738959.1:n.871T>G
XR_001738960.1:n.871T>G