Canonical Allele Identifier: CA8533231

Gene: PGAP3

Linked Data

• ClinVar Variation Id: 500418
• ClinVar RCV Id: RCV000596724 ; RCV000971307
• dbSNP Id: rs147481183
• ExAC: 17:37829392 G / T
• gnomAD v2: 17-37829392-G-T
• gnomAD v3: 17-39673139-G-T
• gnomAD v4: 17-39673139-G-T
• MyVariant Identifiers: chr17:g.37829392G>T (hg19) ; chr17:g.39673139G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39673139G>T , CM000679.2:g.39673139G>T	GRCh38
NC_000017.10:g.37829392G>T , CM000679.1:g.37829392G>T	GRCh37
NC_000017.9:g.35082918G>T	NCBI36
NG_034125.1:g.19932C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.811C>A MANE Select	ENSP00000300658.4:p.Leu271Met
ENST00000300658.8:c.811C>A	ENSP00000300658.4:p.Leu271Met
ENST00000309862.10:n.1196C>A
ENST00000378011.8:c.658C>A	ENSP00000367250.4:p.Leu220Met
ENST00000429199.6:c.748C>A	ENSP00000415765.2:p.Leu250Met
ENST00000579146.5:c.433-273C>A	ENSP00000463234.1:n.433-273C>A
ENST00000614824.4:c.808C>A	ENSP00000480165.1:p.Leu270Met
ENST00000619169.4:c.-264C>A	ENSP00000478028.1:n.-264C>A
NM_001291726.1:c.658C>A	NP_001278655.1:p.Leu220Met
NM_001291728.1:c.748C>A	NP_001278657.1:p.Leu250Met
NM_001291730.1:c.558-273C>A	NP_001278659.1:n.558-273C>A
NM_001291732.1:c.495-273C>A	NP_001278661.1:n.495-273C>A
NM_001291733.1:c.433-273C>A	NP_001278662.1:n.433-273C>A
NM_033419.4:c.811C>A	NP_219487.3:p.Leu271Met
XM_011525480.1:c.695-273C>A	XP_011523782.1:n.695-273C>A
XM_011525481.1:c.466C>A	XP_011523783.1:p.Leu156Met
XM_011525480.2:c.695-273C>A	XP_011523782.1:n.695-273C>A
XM_011525481.2:c.466C>A	XP_011523783.1:p.Leu156Met
XR_002958086.1:n.1338C>A
NM_033419.5:c.811C>A MANE Select	NP_219487.3:p.Leu271Met
NM_001291726.2:c.658C>A	NP_001278655.1:p.Leu220Met
NM_001291728.2:c.748C>A	NP_001278657.1:p.Leu250Met
NM_001291730.2:c.558-273C>A	NP_001278659.1:n.558-273C>A
NM_001291732.2:c.495-273C>A	NP_001278661.1:n.495-273C>A
NM_001291733.2:c.433-273C>A	NP_001278662.1:n.433-273C>A