Canonical Allele Identifier: CA1040939674

Gene: PGAP1

Linked Data

• dbSNP Id: rs1702876630
• gnomAD v3: 2-196912860-A-T
• gnomAD v4: 2-196912860-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912860A>T , CM000664.2:g.196912860A>T	GRCh38
NC_000002.11:g.197777584A>T , CM000664.1:g.197777584A>T	GRCh37
NC_000002.10:g.197485829A>T	NCBI36
NG_046780.1:g.19136T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354764.9:c.649+22T>A MANE Select	ENSP00000346809.3:n.649+22T>A
ENST00000354764.8:c.649+22T>A	ENSP00000346809.3:n.649+22T>A
ENST00000374738.3:c.147+13610T>A	ENSP00000363870.3:n.147+13610T>A
ENST00000409188.5:c.523+22T>A	ENSP00000386802.1:n.523+22T>A
ENST00000409475.5:c.649+22T>A	ENSP00000387028.1:n.649+22T>A
ENST00000423035.5:c.*580+22T>A	ENSP00000415405.1:n.*580+22T>A
ENST00000470179.5:n.271+13610T>A
ENST00000485830.1:n.793+22T>A
NM_024989.3:c.649+22T>A	NP_079265.2:n.649+22T>A
XM_011511878.1:c.649+22T>A	XP_011510180.1:n.649+22T>A
XM_011511879.1:c.127+22T>A	XP_011510181.1:n.127+22T>A
XM_011511880.1:c.649+22T>A	XP_011510182.1:n.649+22T>A
NM_001321099.1:c.127+22T>A	NP_001308028.1:n.127+22T>A
NM_001321100.1:c.-463+22T>A	NP_001308029.1:n.-463+22T>A
XM_017004992.1:c.127+22T>A	XP_016860481.1:n.127+22T>A
XM_017004993.1:c.127+22T>A	XP_016860482.1:n.127+22T>A
XM_017004994.1:c.-463+22T>A	XP_016860483.1:n.-463+22T>A
XM_024453156.1:c.-509+22T>A	XP_024308924.1:n.-509+22T>A
XR_001738959.1:n.1028+22T>A
XR_001738960.1:n.1028+22T>A
NM_024989.4:c.649+22T>A MANE Select	NP_079265.2:n.649+22T>A
NM_001321099.2:c.127+22T>A	NP_001308028.1:n.127+22T>A
NM_001321100.2:c.-463+22T>A	NP_001308029.1:n.-463+22T>A