Canonical Allele Identifier: CA2040622

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196843946G>C , CM000664.2:g.196843946G>C	GRCh38
NC_000002.11:g.197708670G>C , CM000664.1:g.197708670G>C	GRCh37
NC_000002.10:g.197416915G>C	NCBI36
NG_046780.1:g.88050C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024989.4:c.2467C>G MANE Select	NP_079265.2:p.Leu823Val
ENST00000354764.9:c.2467C>G MANE Select	ENSP00000346809.3:p.Leu823Val
NM_001321099.1:c.1945C>G	NP_001308028.1:p.Leu649Val
NM_001321099.2:c.1945C>G	NP_001308028.1:p.Leu649Val
NM_001321100.1:c.1300C>G	NP_001308029.1:p.Leu434Val
NM_001321100.2:c.1300C>G	NP_001308029.1:p.Leu434Val
NM_024989.3:c.2467C>G	NP_079265.2:p.Leu823Val
ENST00000354764.8:c.2467C>G	ENSP00000346809.3:p.Leu823Val
ENST00000422444.1:c.283C>G	ENSP00000390555.1:p.Leu95Val
ENST00000423035.5:c.*2398C>G	ENSP00000415405.1:n.*2398C>G
ENST00000470179.5:n.2677C>G
XM_011511878.1:c.2467C>G	XP_011510180.1:p.Leu823Val
XM_011511879.1:c.1945C>G	XP_011510181.1:p.Leu649Val
XM_017004992.1:c.1945C>G	XP_016860481.1:p.Leu649Val
XM_017004993.1:c.1945C>G	XP_016860482.1:p.Leu649Val
XM_017004994.1:c.1300C>G	XP_016860483.1:p.Leu434Val
XM_024453156.1:c.1300C>G	XP_024308924.1:p.Leu434Val
XR_001738959.1:n.2752C>G