Canonical Allele Identifier: CA2041080

Gene: PGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196897127A>G , CM000664.2:g.196897127A>G	GRCh38
NC_000002.11:g.197761851A>G , CM000664.1:g.197761851A>G	GRCh37
NC_000002.10:g.197470096A>G	NCBI36
NG_046780.1:g.34869T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024989.4:c.927+4T>C MANE Select	NP_079265.2:n.927+4T>C
ENST00000354764.9:c.927+4T>C MANE Select	ENSP00000346809.3:n.927+4T>C
NM_001321099.1:c.405+4T>C	NP_001308028.1:n.405+4T>C
NM_001321099.2:c.405+4T>C	NP_001308028.1:n.405+4T>C
NM_001321100.1:c.-185+4T>C	NP_001308029.1:n.-185+4T>C
NM_001321100.2:c.-185+4T>C	NP_001308029.1:n.-185+4T>C
NM_024989.3:c.927+4T>C	NP_079265.2:n.927+4T>C
ENST00000354764.8:c.927+4T>C	ENSP00000346809.3:n.927+4T>C
ENST00000374738.3:c.267+4T>C	ENSP00000363870.3:n.267+4T>C
ENST00000409188.5:c.801+4T>C	ENSP00000386802.1:n.801+4T>C
ENST00000409475.5:c.927+4T>C	ENSP00000387028.1:n.927+4T>C
ENST00000423035.5:c.*858+4T>C	ENSP00000415405.1:n.*858+4T>C
ENST00000470179.5:n.391+4T>C
ENST00000485830.1:n.1071+4T>C
XM_011511878.1:c.927+4T>C	XP_011510180.1:n.927+4T>C
XM_011511879.1:c.405+4T>C	XP_011510181.1:n.405+4T>C
XM_011511880.1:c.927+4T>C	XP_011510182.1:n.927+4T>C
XM_017004992.1:c.405+4T>C	XP_016860481.1:n.405+4T>C
XM_017004993.1:c.405+4T>C	XP_016860482.1:n.405+4T>C
XM_017004994.1:c.-185+4T>C	XP_016860483.1:n.-185+4T>C
XM_024453156.1:c.-185+4T>C	XP_024308924.1:n.-185+4T>C
XR_001738959.1:n.1306+4T>C
XR_001738960.1:n.1306+4T>C