Canonical Allele Identifier: CA62804592

Gene: PGAP1

Linked Data

• dbSNP Id: rs897190082
• gnomAD v3: 2-196912955-A-C
• gnomAD v4: 2-196912955-A-C
• MyVariant Identifiers: chr2:g.197777679A>C (hg19) ; chr2:g.196912955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912955A>C , CM000664.2:g.196912955A>C	GRCh38
NC_000002.11:g.197777679A>C , CM000664.1:g.197777679A>C	GRCh37
NC_000002.10:g.197485924A>C	NCBI36
NG_046780.1:g.19041T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354764.9:c.576T>G MANE Select	ENSP00000346809.3:p.Asp192Glu
ENST00000354764.8:c.576T>G	ENSP00000346809.3:p.Asp192Glu
ENST00000374738.3:c.147+13515T>G	ENSP00000363870.3:n.147+13515T>G
ENST00000409188.5:c.450T>G	ENSP00000386802.1:p.Asp150Glu
ENST00000409475.5:c.576T>G	ENSP00000387028.1:p.Asp192Glu
ENST00000423035.5:c.*507T>G	ENSP00000415405.1:n.*507T>G
ENST00000470179.5:n.271+13515T>G
ENST00000485830.1:n.720T>G
NM_024989.3:c.576T>G	NP_079265.2:p.Asp192Glu
XM_011511878.1:c.576T>G	XP_011510180.1:p.Asp192Glu
XM_011511879.1:c.54T>G	XP_011510181.1:p.Asp18Glu
XM_011511880.1:c.576T>G	XP_011510182.1:p.Asp192Glu
NM_001321099.1:c.54T>G	NP_001308028.1:p.Asp18Glu
NM_001321100.1:c.-536T>G	NP_001308029.1:n.-536T>G
XM_017004992.1:c.54T>G	XP_016860481.1:p.Asp18Glu
XM_017004993.1:c.54T>G	XP_016860482.1:p.Asp18Glu
XM_017004994.1:c.-536T>G	XP_016860483.1:n.-536T>G
XM_024453156.1:c.-582T>G	XP_024308924.1:n.-582T>G
XR_001738959.1:n.955T>G
XR_001738960.1:n.955T>G
NM_024989.4:c.576T>G MANE Select	NP_079265.2:p.Asp192Glu
NM_001321099.2:c.54T>G	NP_001308028.1:p.Asp18Glu
NM_001321100.2:c.-536T>G	NP_001308029.1:n.-536T>G