Canonical Allele Identifier: CA62804574

Gene: PGAP1

Linked Data

• ClinVar Variation Id: 1344457
• ClinVar RCV Id: RCV001848560 ; RCV002074419
• dbSNP Id: rs1038323136
• gnomAD v2: 2-197777670-A-G
• gnomAD v3: 2-196912946-A-G
• gnomAD v4: 2-196912946-A-G
• MyVariant Identifiers: chr2:g.197777670A>G (hg19) ; chr2:g.196912946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912946A>G , CM000664.2:g.196912946A>G	GRCh38
NC_000002.11:g.197777670A>G , CM000664.1:g.197777670A>G	GRCh37
NC_000002.10:g.197485915A>G	NCBI36
NG_046780.1:g.19050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.585T>C MANE Select	ENSP00000346809.3:p.Asn195=
ENST00000354764.8:c.585T>C	ENSP00000346809.3:p.Asn195=
ENST00000374738.3:c.147+13524T>C	ENSP00000363870.3:n.147+13524T>C
ENST00000409188.5:c.459T>C	ENSP00000386802.1:p.Asn153=
ENST00000409475.5:c.585T>C	ENSP00000387028.1:p.Asn195=
ENST00000423035.5:c.*516T>C	ENSP00000415405.1:n.*516T>C
ENST00000470179.5:n.271+13524T>C
ENST00000485830.1:n.729T>C
NM_024989.3:c.585T>C	NP_079265.2:p.Asn195=
XM_011511878.1:c.585T>C	XP_011510180.1:p.Asn195=
XM_011511879.1:c.63T>C	XP_011510181.1:p.Asn21=
XM_011511880.1:c.585T>C	XP_011510182.1:p.Asn195=
NM_001321099.1:c.63T>C	NP_001308028.1:p.Asn21=
NM_001321100.1:c.-527T>C	NP_001308029.1:n.-527T>C
XM_017004992.1:c.63T>C	XP_016860481.1:p.Asn21=
XM_017004993.1:c.63T>C	XP_016860482.1:p.Asn21=
XM_017004994.1:c.-527T>C	XP_016860483.1:n.-527T>C
XM_024453156.1:c.-573T>C	XP_024308924.1:n.-573T>C
XR_001738959.1:n.964T>C
XR_001738960.1:n.964T>C
NM_024989.4:c.585T>C MANE Select	NP_079265.2:p.Asn195=
NM_001321099.2:c.63T>C	NP_001308028.1:p.Asn21=
NM_001321100.2:c.-527T>C	NP_001308029.1:n.-527T>C