Canonical Allele Identifier: CA350179165

Gene: PGAP1

Linked Data

• dbSNP Id: rs964603373
• gnomAD v2: 2-197777618-G-A
• gnomAD v3: 2-196912894-G-A
• gnomAD v4: 2-196912894-G-A
• COSMIC: COSM3576000
• MyVariant Identifiers: chr2:g.197777618G>A (hg19) ; chr2:g.196912894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912894G>A , CM000664.2:g.196912894G>A	GRCh38
NC_000002.11:g.197777618G>A , CM000664.1:g.197777618G>A	GRCh37
NC_000002.10:g.197485863G>A	NCBI36
NG_046780.1:g.19102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.637C>T MANE Select	ENSP00000346809.3:p.Arg213Cys
ENST00000354764.8:c.637C>T	ENSP00000346809.3:p.Arg213Cys
ENST00000374738.3:c.147+13576C>T	ENSP00000363870.3:n.147+13576C>T
ENST00000409188.5:c.511C>T	ENSP00000386802.1:p.Arg171Cys
ENST00000409475.5:c.637C>T	ENSP00000387028.1:p.Arg213Cys
ENST00000423035.5:c.*568C>T	ENSP00000415405.1:n.*568C>T
ENST00000470179.5:n.271+13576C>T
ENST00000485830.1:n.781C>T
NM_024989.3:c.637C>T	NP_079265.2:p.Arg213Cys
XM_011511878.1:c.637C>T	XP_011510180.1:p.Arg213Cys
XM_011511879.1:c.115C>T	XP_011510181.1:p.Arg39Cys
XM_011511880.1:c.637C>T	XP_011510182.1:p.Arg213Cys
NM_001321099.1:c.115C>T	NP_001308028.1:p.Arg39Cys
NM_001321100.1:c.-475C>T	NP_001308029.1:n.-475C>T
XM_017004992.1:c.115C>T	XP_016860481.1:p.Arg39Cys
XM_017004993.1:c.115C>T	XP_016860482.1:p.Arg39Cys
XM_017004994.1:c.-475C>T	XP_016860483.1:n.-475C>T
XM_024453156.1:c.-521C>T	XP_024308924.1:n.-521C>T
XR_001738959.1:n.1016C>T
XR_001738960.1:n.1016C>T
NM_024989.4:c.637C>T MANE Select	NP_079265.2:p.Arg213Cys
NM_001321099.2:c.115C>T	NP_001308028.1:p.Arg39Cys
NM_001321100.2:c.-475C>T	NP_001308029.1:n.-475C>T