Canonical Allele Identifier: CA343954747
Gene: PRG4 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186311170G>T , CM000663.2:g.186311170G>T GRCh38
NC_000001.10:g.186280302G>T , CM000663.1:g.186280302G>T GRCh37
NC_000001.9:g.184546925G>T NCBI36
NG_008248.2:g.19885G>T
NG_023284.1:g.69156C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000445192.7:c.3636G>T MANE Select ENSP00000399679.3:p.Lys1212Asn
ENST00000367483.8:c.3513G>T ENSP00000356453.4:p.Lys1171Asn
ENST00000367485.4:c.3357G>T ENSP00000356455.4:p.Lys1119Asn
ENST00000445192.6:c.3636G>T ENSP00000399679.2:p.Lys1212Asn
ENST00000635041.1:c.3507G>T ENSP00000489292.1:p.Lys1169Asn
NM_001127708.2:c.3513G>T NP_001121180.2:p.Lys1171Asn
NM_001127709.2:c.3357G>T NP_001121181.2:p.Lys1119Asn
NM_001127710.2:c.3234G>T NP_001121182.2:p.Lys1078Asn
NM_001303232.1:c.3507G>T NP_001290161.1:p.Lys1169Asn
NM_005807.4:c.3636G>T NP_005798.3:p.Lys1212Asn
XM_024448707.1:c.3636G>T XP_024304475.1:p.Lys1212Asn
XM_024448717.1:c.3513G>T XP_024304485.1:p.Lys1171Asn
NM_001127708.3:c.3513G>T NP_001121180.2:p.Lys1171Asn
NM_001127709.3:c.3357G>T NP_001121181.2:p.Lys1119Asn
NM_001127710.3:c.3234G>T NP_001121182.2:p.Lys1078Asn
NM_001303232.2:c.3507G>T NP_001290161.1:p.Lys1169Asn
NM_005807.6:c.3636G>T MANE Select NP_005798.3:p.Lys1212Asn