Canonical Allele Identifier: CA169827500

Gene: LMBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156826381A>G , CM000669.2:g.156826381A>G	GRCh38
NC_000007.13:g.156619075A>G , CM000669.1:g.156619075A>G	GRCh37
NC_000007.12:g.156311836A>G	NCBI36
NG_009240.1:g.71828T>C
NG_009240.2:g.71828T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022458.4:c.319+224T>C MANE Select	NP_071903.2:n.319+224T>C
ENST00000353442.10:c.319+224T>C MANE Select	ENSP00000326604.7:n.319+224T>C
NM_001350953.1:c.319+224T>C	NP_001337882.1:n.319+224T>C
NM_001350953.2:c.319+224T>C	NP_001337882.1:n.319+224T>C
NM_001350954.1:c.40+7372T>C	NP_001337883.1:n.40+7372T>C
NM_001350954.2:c.40+7372T>C	NP_001337883.1:n.40+7372T>C
NM_001350955.1:c.-216+224T>C	NP_001337884.1:n.-216+224T>C
NM_001350955.2:c.-216+224T>C	NP_001337884.1:n.-216+224T>C
NM_001350956.1:c.-216+224T>C	NP_001337885.1:n.-216+224T>C
NM_001350956.2:c.-216+224T>C	NP_001337885.1:n.-216+224T>C
NM_001350957.1:c.-51+224T>C	NP_001337886.1:n.-51+224T>C
NM_001350957.2:c.-51+224T>C	NP_001337886.1:n.-51+224T>C
NM_001350958.1:c.-216+224T>C	NP_001337887.1:n.-216+224T>C
NM_001350958.2:c.-216+224T>C	NP_001337887.1:n.-216+224T>C
NM_001363409.1:c.319+224T>C	NP_001350338.1:n.319+224T>C
NM_001363409.2:c.319+224T>C	NP_001350338.1:n.319+224T>C
NM_001363410.1:c.319+224T>C	NP_001350339.1:n.319+224T>C
NM_001363410.2:c.319+224T>C	NP_001350339.1:n.319+224T>C
NM_001363411.1:c.-51+224T>C	NP_001350340.1:n.-51+224T>C
NM_001363411.2:c.-51+224T>C	NP_001350340.1:n.-51+224T>C
NM_001363412.1:c.256+224T>C	NP_001350341.1:n.256+224T>C
NM_001363412.2:c.256+224T>C	NP_001350341.1:n.256+224T>C
NM_001363413.1:c.-216+224T>C	NP_001350342.1:n.-216+224T>C
NM_001363413.2:c.-216+224T>C	NP_001350342.1:n.-216+224T>C
NM_022458.3:c.319+224T>C	NP_071903.2:n.319+224T>C
NR_146958.1:n.534+224T>C
NR_146958.2:n.509+224T>C
NR_146959.1:n.534+224T>C
NR_146959.2:n.509+224T>C
ENST00000353442.9:c.319+224T>C	ENSP00000326604.7:n.319+224T>C
ENST00000359422.8:c.-138+224T>C	ENSP00000352392.4:n.-138+224T>C
ENST00000414218.1:c.*129+224T>C	ENSP00000392557.1:n.*129+224T>C
ENST00000415428.5:c.313+224T>C	ENSP00000408256.1:n.313+224T>C
ENST00000430278.5:n.329+10432T>C
ENST00000434278.5:c.*62+224T>C	ENSP00000413539.1:n.*62+224T>C
ENST00000434453.1:c.*176+224T>C	ENSP00000397698.1:n.*176+224T>C
ENST00000434503.5:c.139+10432T>C	ENSP00000395754.1:n.139+10432T>C
ENST00000444719.5:c.*141+224T>C	ENSP00000393928.1:n.*141+224T>C
ENST00000454132.5:c.*278+224T>C	ENSP00000414795.1:n.*278+224T>C
ENST00000461469.5:n.363+224T>C
XM_005249555.2:c.319+224T>C	XP_005249612.1:n.319+224T>C
XM_005249556.2:c.-216+224T>C	XP_005249613.1:n.-216+224T>C
XM_005249558.2:c.319+224T>C	XP_005249615.1:n.319+224T>C
XM_011516462.1:c.40+7372T>C	XP_011514764.1:n.40+7372T>C
XM_017012515.2:c.319+224T>C	XP_016868004.1:n.319+224T>C
XR_001744847.1:n.509+224T>C
XR_001744848.1:n.509+224T>C
XR_001744850.1:n.509+224T>C
XR_002956477.1:n.509+224T>C
XR_002956478.1:n.509+224T>C
XR_002956479.1:n.368+7372T>C
XR_002956480.1:n.509+224T>C
XR_002956481.1:n.509+224T>C
XR_002956482.1:n.330+7372T>C
XR_428185.1:n.509+224T>C
XR_927508.1:n.509+224T>C