Canonical Allele Identifier: CA2040848

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196872531T>C , CM000664.2:g.196872531T>C	GRCh38
NC_000002.11:g.197737255T>C , CM000664.1:g.197737255T>C	GRCh37
NC_000002.10:g.197445500T>C	NCBI36
NG_046780.1:g.59465A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024989.4:c.1638A>G MANE Select	NP_079265.2:p.Glu546=
ENST00000354764.9:c.1638A>G MANE Select	ENSP00000346809.3:p.Glu546=
NM_001321099.1:c.1116A>G	NP_001308028.1:p.Glu372=
NM_001321099.2:c.1116A>G	NP_001308028.1:p.Glu372=
NM_001321100.1:c.471A>G	NP_001308029.1:p.Glu157=
NM_001321100.2:c.471A>G	NP_001308029.1:p.Glu157=
NM_024989.3:c.1638A>G	NP_079265.2:p.Glu546=
ENST00000354764.8:c.1638A>G	ENSP00000346809.3:p.Glu546=
ENST00000409475.5:c.1638A>G	ENSP00000387028.1:p.Glu546=
ENST00000423035.5:c.*1569A>G	ENSP00000415405.1:n.*1569A>G
ENST00000470179.5:n.1102A>G
XM_011511878.1:c.1638A>G	XP_011510180.1:p.Glu546=
XM_011511879.1:c.1116A>G	XP_011510181.1:p.Glu372=
XM_011511880.1:c.1638A>G	XP_011510182.1:p.Glu546=
XM_017004992.1:c.1116A>G	XP_016860481.1:p.Glu372=
XM_017004993.1:c.1116A>G	XP_016860482.1:p.Glu372=
XM_017004994.1:c.471A>G	XP_016860483.1:p.Glu157=
XM_024453156.1:c.471A>G	XP_024308924.1:p.Glu157=
XR_001738959.1:n.2017A>G