Canonical Allele Identifier: CA11134688
Community Standard Title: NC_000002.12:g.196926710C>T
Gene: PGAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.196926710C>T , CM000664.2:g.196926710C>T GRCh38
NC_000002.11:g.197791434C>T , CM000664.1:g.197791434C>T GRCh37
NC_000002.10:g.197499679C>T NCBI36
NG_046780.1:g.5286G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001321099.1:c.-700G>A NP_001308028.1:n.-700G>A
NM_001321100.1:c.-1205G>A NP_001308029.1:n.-1205G>A
NM_024989.3:c.-94G>A NP_079265.2:n.-94G>A
ENST00000354764.8:c.-94G>A ENSP00000346809.3:n.-94G>A
ENST00000374738.3:c.-94G>A ENSP00000363870.3:n.-94G>A
ENST00000409188.5:c.21+880G>A ENSP00000386802.1:n.21+880G>A
ENST00000409475.5:c.-94G>A ENSP00000387028.1:n.-94G>A
ENST00000470179.5:n.31G>A
ENST00000485830.1:n.207+880G>A
XM_011511878.1:c.-94G>A XP_011510180.1:n.-94G>A
XM_011511880.1:c.-94G>A XP_011510182.1:n.-94G>A
XR_001738959.1:n.286G>A
XR_001738960.1:n.286G>A