Canonical Allele Identifier: CA401507280
Community Standard Title: NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)
Gene: P4HB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81845900T>A , CM000679.2:g.81845900T>A GRCh38
NC_000017.10:g.79803776T>A , CM000679.1:g.79803776T>A GRCh37
NC_000017.9:g.77397065T>A NCBI36
NG_042033.1:g.19769A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000918.4:c.1148A>T MANE Select NP_000909.2:p.Asp383Val
ENST00000331483.9:c.1148A>T MANE Select ENSP00000327801.4:p.Asp383Val
NM_000918.3:c.1148A>T NP_000909.2:p.Asp383Val
ENST00000331483.8:c.1148A>T ENSP00000327801.4:p.Asp383Val
ENST00000415593.5:c.444A>T
ENST00000415593.6:c.878A>T ENSP00000388117.2:p.Asp293Val
ENST00000439918.6:c.1016A>T ENSP00000388374.2:p.Asp339Val
ENST00000439918.7:c.1016A>T ENSP00000388374.2:p.Asp339Val
ENST00000466567.3:n.5932A>T
ENST00000472244.6:n.1178A>T
ENST00000473021.2:n.330A>T
ENST00000474712.1:n.171A>T
ENST00000474712.2:n.831A>T
ENST00000476482.1:n.335A>T
ENST00000476482.2:n.462A>T
ENST00000477607.7:n.1340A>T
ENST00000484286.2:n.1342A>T
ENST00000570907.6:c.1148A>T ENSP00000461362.2:p.Asp383Val
ENST00000571507.6:n.328A>T
ENST00000571617.1:c.244-253A>T ENSP00000458300.1:n.244-253A>T
ENST00000571617.2:c.1022A>T ENSP00000458300.2:p.Asp341Val
ENST00000574914.2:c.1040A>T ENSP00000460612.2:p.Asp347Val
ENST00000575069.5:c.*963A>T ENSP00000459211.1:n.*963A>T
ENST00000575069.6:c.*963A>T ENSP00000459211.1:n.*963A>T
ENST00000576390.5:c.234-2300A>T ENSP00000461718.1:n.234-2300A>T
ENST00000576390.6:c.1057-158A>T ENSP00000461718.2:n.1057-158A>T
ENST00000679366.1:c.*331A>T ENSP00000506375.1:n.*331A>T
ENST00000679396.1:n.1275A>T
ENST00000679439.1:c.1148A>T ENSP00000505377.1:p.Asp383Val
ENST00000679455.1:c.*959A>T ENSP00000505971.1:n.*959A>T
ENST00000679470.1:n.1552A>T
ENST00000679628.1:n.2450A>T
ENST00000679688.1:c.*769A>T ENSP00000505272.1:n.*769A>T
ENST00000679889.1:c.*331A>T ENSP00000506718.1:n.*331A>T
ENST00000680076.1:n.1246A>T
ENST00000680083.1:c.*882A>T ENSP00000505575.1:n.*882A>T
ENST00000680105.1:c.*606A>T ENSP00000506284.1:n.*606A>T
ENST00000680191.1:c.1223A>T ENSP00000506544.1:p.Asp408Val
ENST00000680208.1:n.1252A>T
ENST00000680226.1:c.1148A>T ENSP00000505635.1:p.Asp383Val
ENST00000680259.1:c.*1649A>T ENSP00000504869.1:n.*1649A>T
ENST00000680368.1:n.2667A>T
ENST00000680400.1:c.179A>T ENSP00000505382.1:p.Asp60Val
ENST00000680416.1:c.*1447A>T ENSP00000506306.1:n.*1447A>T
ENST00000680547.1:n.1849A>T
ENST00000680559.1:n.2136A>T
ENST00000680593.1:c.1148A>T ENSP00000505754.1:p.Asp383Val
ENST00000680719.1:n.1334A>T
ENST00000680732.1:c.*606A>T ENSP00000505727.1:n.*606A>T
ENST00000680799.1:n.1197A>T
ENST00000680838.1:n.1839A>T
ENST00000680846.1:c.*769A>T ENSP00000506612.1:n.*769A>T
ENST00000680847.1:c.*636A>T ENSP00000506451.1:n.*636A>T
ENST00000680884.1:c.1250A>T ENSP00000505953.1:p.Asp417Val
ENST00000680909.1:c.*1475A>T ENSP00000505545.1:n.*1475A>T
ENST00000680914.1:c.1088A>T ENSP00000505149.1:p.Asp363Val
ENST00000681020.1:c.1148A>T ENSP00000506014.1:p.Asp383Val
ENST00000681030.1:c.*1401A>T ENSP00000505707.1:n.*1401A>T
ENST00000681031.1:c.*937A>T ENSP00000505466.1:n.*937A>T
ENST00000681068.1:n.1660A>T
ENST00000681161.1:c.941A>T ENSP00000505659.1:p.Asp314Val
ENST00000681259.1:n.1705A>T
ENST00000681420.1:c.1148A>T ENSP00000505993.1:p.Asp383Val
ENST00000681485.1:n.1381A>T
ENST00000681515.1:c.*551A>T ENSP00000505872.1:n.*551A>T
ENST00000681566.1:c.*331A>T ENSP00000506218.1:n.*331A>T
ENST00000681571.1:n.2222A>T
ENST00000681614.1:n.1542A>T
ENST00000681693.1:c.1067A>T ENSP00000505096.1:p.Asp356Val
ENST00000681760.1:c.*963A>T ENSP00000506555.1:n.*963A>T
ENST00000681835.1:n.2494A>T
ENST00000681872.1:n.1344-158A>T
ENST00000681933.1:c.*965A>T ENSP00000504864.1:n.*965A>T
ENST00000681954.1:n.2197A>T
XM_024450777.1:c.1148A>T XP_024306545.1:p.Asp383Val
XR_002958014.1:n.1212A>T