Canonical Allele Identifier: CA4587932
Community Standard Title: NM_022458.4(LMBR1):c.844C>T (p.Arg282Ter)
Gene: LMBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.156728715G>A , CM000669.2:g.156728715G>A GRCh38
NC_000007.13:g.156521409G>A , CM000669.1:g.156521409G>A GRCh37
NC_000007.12:g.156214170G>A NCBI36
NG_009240.1:g.169494C>T
NG_009240.2:g.169494C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022458.4:c.844C>T MANE Select NP_071903.2:p.Arg282Ter
ENST00000353442.10:c.844C>T MANE Select ENSP00000326604.7:p.Arg282Ter
NM_001350953.1:c.967C>T NP_001337882.1:p.Arg323Ter
NM_001350953.2:c.967C>T NP_001337882.1:p.Arg323Ter
NM_001350954.1:c.565C>T NP_001337883.1:p.Arg189Ter
NM_001350954.2:c.565C>T NP_001337883.1:p.Arg189Ter
NM_001350955.1:c.388C>T NP_001337884.1:p.Arg130Ter
NM_001350955.2:c.388C>T NP_001337884.1:p.Arg130Ter
NM_001350956.1:c.388C>T NP_001337885.1:p.Arg130Ter
NM_001350956.2:c.388C>T NP_001337885.1:p.Arg130Ter
NM_001350957.1:c.475C>T NP_001337886.1:p.Arg159Ter
NM_001350957.2:c.475C>T NP_001337886.1:p.Arg159Ter
NM_001350958.1:c.388C>T NP_001337887.1:p.Arg130Ter
NM_001350958.2:c.388C>T NP_001337887.1:p.Arg130Ter
NM_001363409.1:c.967C>T NP_001350338.1:p.Arg323Ter
NM_001363409.2:c.967C>T NP_001350338.1:p.Arg323Ter
NM_001363410.1:c.844C>T NP_001350339.1:p.Arg282Ter
NM_001363410.2:c.844C>T NP_001350339.1:p.Arg282Ter
NM_001363411.1:c.475C>T NP_001350340.1:p.Arg159Ter
NM_001363411.2:c.475C>T NP_001350340.1:p.Arg159Ter
NM_001363412.1:c.781C>T NP_001350341.1:p.Arg261Ter
NM_001363412.2:c.781C>T NP_001350341.1:p.Arg261Ter
NM_001363413.1:c.388C>T NP_001350342.1:p.Arg130Ter
NM_001363413.2:c.388C>T NP_001350342.1:p.Arg130Ter
NM_022458.3:c.844C>T NP_071903.2:p.Arg282Ter
NR_146958.1:n.1054-2878C>T
NR_146958.2:n.1029-2878C>T
NR_146959.1:n.1059C>T
NR_146959.2:n.1034C>T
ENST00000353442.9:c.844C>T ENSP00000326604.7:p.Arg282Ter
ENST00000359422.8:c.388C>T ENSP00000352392.4:p.Arg130Ter
ENST00000415428.5:c.961C>T ENSP00000408256.1:p.Arg321Ter
ENST00000434503.5:c.*321-4537C>T ENSP00000395754.1:n.*321-4537C>T
ENST00000448926.5:c.604C>T ENSP00000403052.1:n.604C>T
ENST00000454132.5:c.*881C>T ENSP00000414795.1:n.*881C>T
ENST00000461603.5:n.142C>T
ENST00000650699.1:c.388C>T ENSP00000498334.1:p.Arg130Ter
XM_005249555.2:c.844C>T XP_005249612.1:p.Arg282Ter
XM_005249556.2:c.388C>T XP_005249613.1:p.Arg130Ter
XM_005249558.2:c.839-4537C>T XP_005249615.1:n.839-4537C>T
XM_011516462.1:c.565C>T XP_011514764.1:p.Arg189Ter
XM_017012515.2:c.962-4537C>T XP_016868004.1:n.962-4537C>T
XR_001744847.1:n.1157C>T
XR_001744848.1:n.1157C>T
XR_001744850.1:n.1152-4537C>T
XR_002956477.1:n.1034C>T
XR_002956478.1:n.1157C>T
XR_002956479.1:n.1016C>T
XR_002956480.1:n.1034C>T
XR_002956481.1:n.1112C>T
XR_002956482.1:n.855C>T
XR_428185.1:n.1029-4537C>T
XR_927508.1:n.1034C>T