Canonical Allele Identifier: CA350179467

Gene: PGAP1

Linked Data

• gnomAD v4: 2-196912950-A-G
• MyVariant Identifiers: chr2:g.197777674A>G (hg19) ; chr2:g.196912950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912950A>G , CM000664.2:g.196912950A>G	GRCh38
NC_000002.11:g.197777674A>G , CM000664.1:g.197777674A>G	GRCh37
NC_000002.10:g.197485919A>G	NCBI36
NG_046780.1:g.19046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.581T>C MANE Select	ENSP00000346809.3:p.Ile194Thr
ENST00000354764.8:c.581T>C	ENSP00000346809.3:p.Ile194Thr
ENST00000374738.3:c.147+13520T>C	ENSP00000363870.3:n.147+13520T>C
ENST00000409188.5:c.455T>C	ENSP00000386802.1:p.Ile152Thr
ENST00000409475.5:c.581T>C	ENSP00000387028.1:p.Ile194Thr
ENST00000423035.5:c.*512T>C	ENSP00000415405.1:n.*512T>C
ENST00000470179.5:n.271+13520T>C
ENST00000485830.1:n.725T>C
NM_024989.3:c.581T>C	NP_079265.2:p.Ile194Thr
XM_011511878.1:c.581T>C	XP_011510180.1:p.Ile194Thr
XM_011511879.1:c.59T>C	XP_011510181.1:p.Ile20Thr
XM_011511880.1:c.581T>C	XP_011510182.1:p.Ile194Thr
NM_001321099.1:c.59T>C	NP_001308028.1:p.Ile20Thr
NM_001321100.1:c.-531T>C	NP_001308029.1:n.-531T>C
XM_017004992.1:c.59T>C	XP_016860481.1:p.Ile20Thr
XM_017004993.1:c.59T>C	XP_016860482.1:p.Ile20Thr
XM_017004994.1:c.-531T>C	XP_016860483.1:n.-531T>C
XM_024453156.1:c.-577T>C	XP_024308924.1:n.-577T>C
XR_001738959.1:n.960T>C
XR_001738960.1:n.960T>C
NM_024989.4:c.581T>C MANE Select	NP_079265.2:p.Ile194Thr
NM_001321099.2:c.59T>C	NP_001308028.1:p.Ile20Thr
NM_001321100.2:c.-531T>C	NP_001308029.1:n.-531T>C