Canonical Allele Identifier: CA4587780

Gene: LMBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156688155C>G , CM000669.2:g.156688155C>G	GRCh38
NC_000007.13:g.156480849C>G , CM000669.1:g.156480849C>G	GRCh37
NC_000007.12:g.156173610C>G	NCBI36
NG_009240.1:g.210054G>C
NG_009240.2:g.210054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353442.10:c.1262G>C MANE Select	ENSP00000326604.7:p.Arg421Thr
ENST00000650699.1:c.770-3992G>C	ENSP00000498334.1:n.770-3992G>C
ENST00000353442.9:c.1262G>C	ENSP00000326604.7:p.Arg421Thr
ENST00000359422.8:c.770-3992G>C	ENSP00000352392.4:n.770-3992G>C
ENST00000415428.5:c.1379G>C	ENSP00000408256.1:p.Arg460Thr
ENST00000434503.5:c.*424G>C	ENSP00000395754.1:n.*424G>C
ENST00000448926.5:c.986-3992G>C	ENSP00000403052.1:n.986-3992G>C
ENST00000454132.5:c.*1299G>C	ENSP00000414795.1:n.*1299G>C
ENST00000461603.5:n.560G>C
ENST00000486837.1:n.535G>C
NM_022458.3:c.1262G>C	NP_071903.2:p.Arg421Thr
XM_005249555.2:c.1226-3992G>C	XP_005249612.1:n.1226-3992G>C
XM_005249556.2:c.806G>C	XP_005249613.1:p.Arg269Thr
XM_005249558.2:c.906-3992G>C	XP_005249615.1:n.906-3992G>C
XM_011516462.1:c.983G>C	XP_011514764.1:p.Arg328Thr
XR_428185.1:n.1132G>C
XR_927508.1:n.1452G>C
NM_001350953.1:c.1385G>C	NP_001337882.1:p.Arg462Thr
NM_001350954.1:c.947-3992G>C	NP_001337883.1:n.947-3992G>C
NM_001350955.1:c.806G>C	NP_001337884.1:p.Arg269Thr
NM_001350956.1:c.806G>C	NP_001337885.1:p.Arg269Thr
NM_001350957.1:c.857-3992G>C	NP_001337886.1:n.857-3992G>C
NM_001350958.1:c.770-3992G>C	NP_001337887.1:n.770-3992G>C
NM_001363409.1:c.1349-3992G>C	NP_001350338.1:n.1349-3992G>C
NM_001363410.1:c.1226-3992G>C	NP_001350339.1:n.1226-3992G>C
NM_001363411.1:c.893G>C	NP_001350340.1:p.Arg298Thr
NM_001363412.1:c.1163-3992G>C	NP_001350341.1:n.1163-3992G>C
NM_001363413.1:c.806G>C	NP_001350342.1:p.Arg269Thr
NR_146958.1:n.1322G>C
NR_146959.1:n.1477G>C
XM_017012515.2:c.1029-3992G>C	XP_016868004.1:n.1029-3992G>C
XR_001744847.1:n.1575G>C
XR_001744848.1:n.1575G>C
XR_001744850.1:n.1255G>C
XR_002956477.1:n.1452G>C
XR_002956478.1:n.1539-3992G>C
XR_002956479.1:n.1434G>C
XR_002956480.1:n.1416-3992G>C
XR_002956481.1:n.1530G>C
XR_002956482.1:n.1273G>C
NM_001350953.2:c.1385G>C	NP_001337882.1:p.Arg462Thr
NM_001350954.2:c.947-3992G>C	NP_001337883.1:n.947-3992G>C
NM_001350955.2:c.806G>C	NP_001337884.1:p.Arg269Thr
NM_001350956.2:c.806G>C	NP_001337885.1:p.Arg269Thr
NM_001350957.2:c.857-3992G>C	NP_001337886.1:n.857-3992G>C
NM_001350958.2:c.770-3992G>C	NP_001337887.1:n.770-3992G>C
NM_001363409.2:c.1349-3992G>C	NP_001350338.1:n.1349-3992G>C
NM_001363410.2:c.1226-3992G>C	NP_001350339.1:n.1226-3992G>C
NM_001363411.2:c.893G>C	NP_001350340.1:p.Arg298Thr
NM_001363412.2:c.1163-3992G>C	NP_001350341.1:n.1163-3992G>C
NM_001363413.2:c.806G>C	NP_001350342.1:p.Arg269Thr
NM_022458.4:c.1262G>C MANE Select	NP_071903.2:p.Arg421Thr
NR_146958.2:n.1297G>C
NR_146959.2:n.1452G>C