Canonical Allele Identifier: CA2399207879
Community Standard Title: NM_022081.6(HPS4):c.516G= (p.Leu172=)
Gene: HPS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26470799C= , CM000684.2:g.26470799C= GRCh38
NC_000022.10:g.26866765C= , CM000684.1:g.26866765C= GRCh37
NC_000022.9:g.25196765C= NCBI36
NG_009763.2:g.18065G= , LRG_590:g.18065G=

Transcript Alleles

HGVS Amino-acid Change
NM_022081.6:c.516G= MANE Select NP_071364.4:p.Leu172=
ENST00000398145.7:c.516G= MANE Select ENSP00000381213.2:p.Leu172=
NM_001349896.1:c.516G= NP_001336825.1:p.Leu172=
NM_001349898.1:c.516G= NP_001336827.1:p.Leu172=
NM_001349898.2:c.516G= NP_001336827.1:p.Leu172=
NM_001349899.1:c.516G= NP_001336828.1:p.Leu172=
NM_001349899.2:c.516G= NP_001336828.1:p.Leu172=
NM_001349900.1:c.516G= NP_001336829.1:p.Leu172=
NM_001349900.2:c.516G= NP_001336829.1:p.Leu172=
NM_001349901.1:c.516G= NP_001336830.1:p.Leu172=
NM_001349902.1:c.516G= NP_001336831.1:p.Leu172=
NM_001349903.1:c.516G= NP_001336832.1:p.Leu172=
NM_001349903.2:c.516G= NP_001336832.1:p.Leu172=
NM_001349904.1:c.516G= NP_001336833.1:p.Leu172=
NM_001349904.2:c.516G= NP_001336833.1:p.Leu172=
NM_001349905.1:c.516G= NP_001336834.1:p.Leu172=
NM_022081.5:c.516G= , LRG_590t1:c.516G= NP_071364.4:p.Leu172=
NM_152841.2:c.501G= , LRG_590t2:c.501G= NP_690054.1:p.Leu167=
NR_073135.1:n.1202G=
NR_073136.1:n.910G=
NR_073136.2:n.717G=
NR_146311.1:n.1293G=
NR_146311.2:n.1213G=
NR_146312.1:n.1093G=
NR_146313.1:n.1113G=
NR_146313.2:n.1033G=
NR_146314.1:n.1269G=
NR_146315.1:n.1184G=
NR_146315.2:n.1104G=
NR_146316.1:n.1184G=
NR_146316.2:n.1104G=
ENST00000336873.9:c.516G= ENSP00000338457.5:p.Leu172=
ENST00000398145.6:c.516G= ENSP00000381213.2:p.Leu172=
ENST00000402105.7:c.501G= ENSP00000384185.3:p.Leu167=
ENST00000422379.2:c.516G= ENSP00000415081.2:p.Leu172=
ENST00000422379.3:c.516G= ENSP00000415081.3:p.Leu172=
ENST00000429411.5:c.*34G= ENSP00000399705.1:n.*34G=
ENST00000439453.5:c.*34G= ENSP00000406764.1:n.*34G=
ENST00000459918.1:n.335G=
ENST00000464362.5:c.*173G= ENSP00000430291.1:n.*173G=
ENST00000466781.5:n.1087G=
ENST00000473782.2:c.516G= ENSP00000514223.1:p.Leu172=
ENST00000483631.2:c.-280G= ENSP00000514228.1:n.-280G=
ENST00000485842.5:n.251G=
ENST00000491142.2:c.516G= ENSP00000514221.1:p.Leu172=
ENST00000496385.5:n.608G=
ENST00000699227.1:c.516G= ENSP00000514220.1:p.Leu172=
ENST00000699228.1:n.1066G=
ENST00000699233.1:n.387G=
ENST00000699234.1:c.501G= ENSP00000514222.1:p.Leu167=
ENST00000699235.1:c.-207G= ENSP00000514224.1:n.-207G=
ENST00000699236.1:c.516G= ENSP00000514225.1:p.Leu172=
ENST00000699237.1:c.516G= ENSP00000514226.1:p.Leu172=
ENST00000699238.1:c.*34G= ENSP00000514227.1:n.*34G=
ENST00000699239.1:n.982G=
ENST00000699240.1:c.*173G= ENSP00000514229.1:n.*173G=
ENST00000699241.1:c.*34G= ENSP00000514230.1:n.*34G=
ENST00000699242.1:c.372G= ENSP00000514231.1:p.Leu124=
ENST00000699243.1:c.516G= ENSP00000514232.1:p.Leu172=
ENST00000699244.1:c.516G= ENSP00000514233.1:p.Leu172=
ENST00000699246.1:c.*34G= ENSP00000514234.1:n.*34G=
ENST00000699247.1:c.516G= ENSP00000514235.1:p.Leu172=
ENST00000699248.1:n.2586G=
ENST00000699249.1:c.516G= ENSP00000514236.1:p.Leu172=
ENST00000699250.1:c.516G= ENSP00000514237.1:p.Leu172=
ENST00000699251.1:c.516G= ENSP00000514238.1:p.Leu172=
ENST00000699252.1:n.1066G=
ENST00000699253.1:n.2574G=
ENST00000699254.1:n.2760G=
ENST00000699255.1:n.2090G=
XM_006724353.2:c.516G= XP_006724416.1:p.Leu172=
XM_006724354.2:c.516G= XP_006724417.1:p.Leu172=
XM_006724360.2:c.-173G= XP_006724423.1:n.-173G=
XM_006724360.3:c.-173G= XP_006724423.1:n.-173G=
XM_011530485.1:c.594G= XP_011528787.1:p.Leu198=
XM_011530485.2:c.594G= XP_011528787.1:p.Leu198=
XM_011530486.1:c.594G= XP_011528788.1:p.Leu198=
XM_011530486.2:c.594G= XP_011528788.1:p.Leu198=
XM_011530487.1:c.594G= XP_011528789.1:p.Leu198=
XM_011530487.2:c.594G= XP_011528789.1:p.Leu198=
XM_011530488.1:c.594G= XP_011528790.1:p.Leu198=
XM_011530488.2:c.594G= XP_011528790.1:p.Leu198=
XM_011530489.1:c.594G= XP_011528791.1:p.Leu198=
XM_011530489.2:c.594G= XP_011528791.1:p.Leu198=
XM_011530490.1:c.594G= XP_011528792.1:p.Leu198=
XM_011530490.3:c.594G= XP_011528792.1:p.Leu198=
XM_011530491.1:c.594G= XP_011528793.1:p.Leu198=
XM_011530491.3:c.594G= XP_011528793.1:p.Leu198=
XM_011530492.1:c.594G= XP_011528794.1:p.Leu198=
XM_011530492.2:c.594G= XP_011528794.1:p.Leu198=
XM_011530493.1:c.594G= XP_011528795.1:p.Leu198=
XM_011530493.3:c.594G= XP_011528795.1:p.Leu198=
XM_011530494.1:c.-199G= XP_011528796.1:n.-199G=
XM_011530494.2:c.-199G= XP_011528796.1:n.-199G=
XM_017029045.2:c.594G= XP_016884534.1:p.Leu198=
XM_017029046.2:c.516G= XP_016884535.1:p.Leu172=
XM_017029047.2:c.594G= XP_016884536.1:p.Leu198=
XM_017029052.2:c.54G= XP_016884541.1:p.Leu18=
XM_017029056.2:c.-280G= XP_016884545.1:n.-280G=
XM_017029061.2:c.-305G= XP_016884550.1:n.-305G=
XM_017029062.2:c.-280G= XP_016884551.1:n.-280G=
XM_017029063.2:c.-305G= XP_016884552.1:n.-305G=
XM_017029064.2:c.-280G= XP_016884553.1:n.-280G=
XM_024452298.1:c.-2400G= XP_024308066.1:n.-2400G=
XM_024452299.1:c.-954G= XP_024308067.1:n.-954G=
XM_024452300.1:c.-305G= XP_024308068.1:n.-305G=
XR_001755361.2:n.1170G=
XR_001755364.1:n.1080G=
XR_001755366.2:n.1079G=
XR_002958721.1:n.1248G=
XR_937947.1:n.1253G=
XR_937947.2:n.1248G=