Canonical Allele Identifier: CA350179495

Gene: PGAP1

Linked Data

• MyVariant Identifiers: chr2:g.197777677A>T (hg19) ; chr2:g.196912953A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912953A>T , CM000664.2:g.196912953A>T	GRCh38
NC_000002.11:g.197777677A>T , CM000664.1:g.197777677A>T	GRCh37
NC_000002.10:g.197485922A>T	NCBI36
NG_046780.1:g.19043T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.578T>A MANE Select	ENSP00000346809.3:p.Leu193Gln
ENST00000354764.8:c.578T>A	ENSP00000346809.3:p.Leu193Gln
ENST00000374738.3:c.147+13517T>A	ENSP00000363870.3:n.147+13517T>A
ENST00000409188.5:c.452T>A	ENSP00000386802.1:p.Leu151Gln
ENST00000409475.5:c.578T>A	ENSP00000387028.1:p.Leu193Gln
ENST00000423035.5:c.*509T>A	ENSP00000415405.1:n.*509T>A
ENST00000470179.5:n.271+13517T>A
ENST00000485830.1:n.722T>A
NM_024989.3:c.578T>A	NP_079265.2:p.Leu193Gln
XM_011511878.1:c.578T>A	XP_011510180.1:p.Leu193Gln
XM_011511879.1:c.56T>A	XP_011510181.1:p.Leu19Gln
XM_011511880.1:c.578T>A	XP_011510182.1:p.Leu193Gln
NM_001321099.1:c.56T>A	NP_001308028.1:p.Leu19Gln
NM_001321100.1:c.-534T>A	NP_001308029.1:n.-534T>A
XM_017004992.1:c.56T>A	XP_016860481.1:p.Leu19Gln
XM_017004993.1:c.56T>A	XP_016860482.1:p.Leu19Gln
XM_017004994.1:c.-534T>A	XP_016860483.1:n.-534T>A
XM_024453156.1:c.-580T>A	XP_024308924.1:n.-580T>A
XR_001738959.1:n.957T>A
XR_001738960.1:n.957T>A
NM_024989.4:c.578T>A MANE Select	NP_079265.2:p.Leu193Gln
NM_001321099.2:c.56T>A	NP_001308028.1:p.Leu19Gln
NM_001321100.2:c.-534T>A	NP_001308029.1:n.-534T>A