Canonical Allele Identifier: CA350179505

Gene: PGAP1

Linked Data

• dbSNP Id: rs1576195685
• gnomAD v4: 2-196912956-T-A
• MyVariant Identifiers: chr2:g.197777680T>A (hg19) ; chr2:g.196912956T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912956T>A , CM000664.2:g.196912956T>A	GRCh38
NC_000002.11:g.197777680T>A , CM000664.1:g.197777680T>A	GRCh37
NC_000002.10:g.197485925T>A	NCBI36
NG_046780.1:g.19040A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.575A>T MANE Select	ENSP00000346809.3:p.Asp192Val
ENST00000354764.8:c.575A>T	ENSP00000346809.3:p.Asp192Val
ENST00000374738.3:c.147+13514A>T	ENSP00000363870.3:n.147+13514A>T
ENST00000409188.5:c.449A>T	ENSP00000386802.1:p.Asp150Val
ENST00000409475.5:c.575A>T	ENSP00000387028.1:p.Asp192Val
ENST00000423035.5:c.*506A>T	ENSP00000415405.1:n.*506A>T
ENST00000470179.5:n.271+13514A>T
ENST00000485830.1:n.719A>T
NM_024989.3:c.575A>T	NP_079265.2:p.Asp192Val
XM_011511878.1:c.575A>T	XP_011510180.1:p.Asp192Val
XM_011511879.1:c.53A>T	XP_011510181.1:p.Asp18Val
XM_011511880.1:c.575A>T	XP_011510182.1:p.Asp192Val
NM_001321099.1:c.53A>T	NP_001308028.1:p.Asp18Val
NM_001321100.1:c.-537A>T	NP_001308029.1:n.-537A>T
XM_017004992.1:c.53A>T	XP_016860481.1:p.Asp18Val
XM_017004993.1:c.53A>T	XP_016860482.1:p.Asp18Val
XM_017004994.1:c.-537A>T	XP_016860483.1:n.-537A>T
XM_024453156.1:c.-583A>T	XP_024308924.1:n.-583A>T
XR_001738959.1:n.954A>T
XR_001738960.1:n.954A>T
NM_024989.4:c.575A>T MANE Select	NP_079265.2:p.Asp192Val
NM_001321099.2:c.53A>T	NP_001308028.1:p.Asp18Val
NM_001321100.2:c.-537A>T	NP_001308029.1:n.-537A>T