Canonical Allele Identifier: CA343927910

Gene: PRG4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186306681T>A , CM000663.2:g.186306681T>A	GRCh38
NC_000001.10:g.186275813T>A , CM000663.1:g.186275813T>A	GRCh37
NC_000001.9:g.184542436T>A	NCBI36
NG_008248.2:g.15396T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005807.6:c.962T>A MANE Select	NP_005798.3:p.Leu321Ter
ENST00000445192.7:c.962T>A MANE Select	ENSP00000399679.3:p.Leu321Ter
NM_001127708.2:c.839T>A	NP_001121180.2:p.Leu280Ter
NM_001127708.3:c.839T>A	NP_001121180.2:p.Leu280Ter
NM_001127709.2:c.683T>A	NP_001121181.2:p.Leu228Ter
NM_001127709.3:c.683T>A	NP_001121181.2:p.Leu228Ter
NM_001127710.2:c.560T>A	NP_001121182.2:p.Leu187Ter
NM_001127710.3:c.560T>A	NP_001121182.2:p.Leu187Ter
NM_001303232.1:c.833T>A	NP_001290161.1:p.Leu278Ter
NM_001303232.2:c.833T>A	NP_001290161.1:p.Leu278Ter
NM_005807.4:c.962T>A	NP_005798.3:p.Leu321Ter
ENST00000367482.8:c.560T>A	ENSP00000356452.4:p.Leu187Ter
ENST00000367483.8:c.839T>A	ENSP00000356453.4:p.Leu280Ter
ENST00000367485.4:c.683T>A	ENSP00000356455.4:p.Leu228Ter
ENST00000445192.6:c.962T>A	ENSP00000399679.2:p.Leu321Ter
ENST00000635041.1:c.833T>A	ENSP00000489292.1:p.Leu278Ter
XM_024448707.1:c.962T>A	XP_024304475.1:p.Leu321Ter
XM_024448717.1:c.839T>A	XP_024304485.1:p.Leu280Ter