Canonical Allele Identifier: CA2040589

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196842747A>G , CM000664.2:g.196842747A>G	GRCh38
NC_000002.11:g.197707471A>G , CM000664.1:g.197707471A>G	GRCh37
NC_000002.10:g.197415716A>G	NCBI36
NG_046780.1:g.89249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.2604T>C MANE Select	ENSP00000346809.3:p.Asn868=
ENST00000354764.8:c.2604T>C	ENSP00000346809.3:p.Asn868=
ENST00000422444.1:c.341+1141T>C	ENSP00000390555.1:n.341+1141T>C
ENST00000423035.5:c.*2535T>C	ENSP00000415405.1:n.*2535T>C
ENST00000459896.5:n.79T>C
ENST00000470179.5:n.2814T>C
NM_024989.3:c.2604T>C	NP_079265.2:p.Asn868=
XM_011511878.1:c.2604T>C	XP_011510180.1:p.Asn868=
XM_011511879.1:c.2082T>C	XP_011510181.1:p.Asn694=
NM_001321099.1:c.2082T>C	NP_001308028.1:p.Asn694=
NM_001321100.1:c.1437T>C	NP_001308029.1:p.Asn479=
XM_017004992.1:c.2082T>C	XP_016860481.1:p.Asn694=
XM_017004993.1:c.2082T>C	XP_016860482.1:p.Asn694=
XM_017004994.1:c.1437T>C	XP_016860483.1:p.Asn479=
XM_024453156.1:c.1437T>C	XP_024308924.1:p.Asn479=
XR_001738959.1:n.2889T>C
NM_024989.4:c.2604T>C MANE Select	NP_079265.2:p.Asn868=
NM_001321099.2:c.2082T>C	NP_001308028.1:p.Asn694=
NM_001321100.2:c.1437T>C	NP_001308029.1:p.Asn479=