Canonical Allele Identifier: CA2040731

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196847146G>A , CM000664.2:g.196847146G>A	GRCh38
NC_000002.11:g.197711870G>A , CM000664.1:g.197711870G>A	GRCh37
NC_000002.10:g.197420115G>A	NCBI36
NG_046780.1:g.84850C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024989.4:c.2007C>T MANE Select	NP_079265.2:p.Ala669=
ENST00000354764.9:c.2007C>T MANE Select	ENSP00000346809.3:p.Ala669=
NM_001321099.1:c.1485C>T	NP_001308028.1:p.Ala495=
NM_001321099.2:c.1485C>T	NP_001308028.1:p.Ala495=
NM_001321100.1:c.840C>T	NP_001308029.1:p.Ala280=
NM_001321100.2:c.840C>T	NP_001308029.1:p.Ala280=
NM_024989.3:c.2007C>T	NP_079265.2:p.Ala669=
ENST00000354764.8:c.2007C>T	ENSP00000346809.3:p.Ala669=
ENST00000423035.5:c.*1938C>T	ENSP00000415405.1:n.*1938C>T
ENST00000470179.5:n.2217C>T
XM_011511878.1:c.2007C>T	XP_011510180.1:p.Ala669=
XM_011511879.1:c.1485C>T	XP_011510181.1:p.Ala495=
XM_017004992.1:c.1485C>T	XP_016860481.1:p.Ala495=
XM_017004993.1:c.1485C>T	XP_016860482.1:p.Ala495=
XM_017004994.1:c.840C>T	XP_016860483.1:p.Ala280=
XM_024453156.1:c.840C>T	XP_024308924.1:p.Ala280=
XR_001738959.1:n.2292C>T