Canonical Allele Identifier: CA343939917
Community Standard Title: NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter)
Gene: PRG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186307934A>T , CM000663.2:g.186307934A>T GRCh38
NC_000001.10:g.186277066A>T , CM000663.1:g.186277066A>T GRCh37
NC_000001.9:g.184543689A>T NCBI36
NG_008248.2:g.16649A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005807.6:c.2215A>T MANE Select NP_005798.3:p.Lys739Ter
ENST00000445192.7:c.2215A>T MANE Select ENSP00000399679.3:p.Lys739Ter
NM_001127708.2:c.2092A>T NP_001121180.2:p.Lys698Ter
NM_001127708.3:c.2092A>T NP_001121180.2:p.Lys698Ter
NM_001127709.2:c.1936A>T NP_001121181.2:p.Lys646Ter
NM_001127709.3:c.1936A>T NP_001121181.2:p.Lys646Ter
NM_001127710.2:c.1813A>T NP_001121182.2:p.Lys605Ter
NM_001127710.3:c.1813A>T NP_001121182.2:p.Lys605Ter
NM_001303232.1:c.2086A>T NP_001290161.1:p.Lys696Ter
NM_001303232.2:c.2086A>T NP_001290161.1:p.Lys696Ter
NM_005807.4:c.2215A>T NP_005798.3:p.Lys739Ter
ENST00000367482.8:c.1813A>T ENSP00000356452.4:p.Lys605Ter
ENST00000367483.8:c.2092A>T ENSP00000356453.4:p.Lys698Ter
ENST00000367485.4:c.1936A>T ENSP00000356455.4:p.Lys646Ter
ENST00000445192.6:c.2215A>T ENSP00000399679.2:p.Lys739Ter
ENST00000635041.1:c.2086A>T ENSP00000489292.1:p.Lys696Ter
XM_024448707.1:c.2215A>T XP_024304475.1:p.Lys739Ter
XM_024448717.1:c.2092A>T XP_024304485.1:p.Lys698Ter