Canonical Allele Identifier: CA350179471

Gene: PGAP1

Linked Data

• COSMIC: COSM5502595
• MyVariant Identifiers: chr2:g.197777675T>A (hg19) ; chr2:g.196912951T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912951T>A , CM000664.2:g.196912951T>A	GRCh38
NC_000002.11:g.197777675T>A , CM000664.1:g.197777675T>A	GRCh37
NC_000002.10:g.197485920T>A	NCBI36
NG_046780.1:g.19045A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.580A>T MANE Select	ENSP00000346809.3:p.Ile194Leu
ENST00000354764.8:c.580A>T	ENSP00000346809.3:p.Ile194Leu
ENST00000374738.3:c.147+13519A>T	ENSP00000363870.3:n.147+13519A>T
ENST00000409188.5:c.454A>T	ENSP00000386802.1:p.Ile152Leu
ENST00000409475.5:c.580A>T	ENSP00000387028.1:p.Ile194Leu
ENST00000423035.5:c.*511A>T	ENSP00000415405.1:n.*511A>T
ENST00000470179.5:n.271+13519A>T
ENST00000485830.1:n.724A>T
NM_024989.3:c.580A>T	NP_079265.2:p.Ile194Leu
XM_011511878.1:c.580A>T	XP_011510180.1:p.Ile194Leu
XM_011511879.1:c.58A>T	XP_011510181.1:p.Ile20Leu
XM_011511880.1:c.580A>T	XP_011510182.1:p.Ile194Leu
NM_001321099.1:c.58A>T	NP_001308028.1:p.Ile20Leu
NM_001321100.1:c.-532A>T	NP_001308029.1:n.-532A>T
XM_017004992.1:c.58A>T	XP_016860481.1:p.Ile20Leu
XM_017004993.1:c.58A>T	XP_016860482.1:p.Ile20Leu
XM_017004994.1:c.-532A>T	XP_016860483.1:n.-532A>T
XM_024453156.1:c.-578A>T	XP_024308924.1:n.-578A>T
XR_001738959.1:n.959A>T
XR_001738960.1:n.959A>T
NM_024989.4:c.580A>T MANE Select	NP_079265.2:p.Ile194Leu
NM_001321099.2:c.58A>T	NP_001308028.1:p.Ile20Leu
NM_001321100.2:c.-532A>T	NP_001308029.1:n.-532A>T