Canonical Allele Identifier: CA246799
Community Standard Title: NM_022458.4(LMBR1):c.453G>T (p.Leu151Phe)
Gene: LMBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.156763766C>A , CM000669.2:g.156763766C>A GRCh38
NC_000007.13:g.156556460C>A , CM000669.1:g.156556460C>A GRCh37
NC_000007.12:g.156249221C>A NCBI36
NG_009240.1:g.134443G>T
NG_009240.2:g.134443G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022458.4:c.453G>T MANE Select NP_071903.2:p.Leu151Phe
ENST00000353442.10:c.453G>T MANE Select ENSP00000326604.7:p.Leu151Phe
NM_001350953.1:c.453G>T NP_001337882.1:p.Leu151Phe
NM_001350953.2:c.453G>T NP_001337882.1:p.Leu151Phe
NM_001350954.1:c.174G>T NP_001337883.1:p.Leu58Phe
NM_001350954.2:c.174G>T NP_001337883.1:p.Leu58Phe
NM_001350955.1:c.-4G>T NP_001337884.1:n.-4G>T
NM_001350955.2:c.-4G>T NP_001337884.1:n.-4G>T
NM_001350956.1:c.-4G>T NP_001337885.1:n.-4G>T
NM_001350956.2:c.-4G>T NP_001337885.1:n.-4G>T
NM_001350957.1:c.84G>T NP_001337886.1:p.Leu28Phe
NM_001350957.2:c.84G>T NP_001337886.1:p.Leu28Phe
NM_001350958.1:c.-4G>T NP_001337887.1:n.-4G>T
NM_001350958.2:c.-4G>T NP_001337887.1:n.-4G>T
NM_001363409.1:c.453G>T NP_001350338.1:p.Leu151Phe
NM_001363409.2:c.453G>T NP_001350338.1:p.Leu151Phe
NM_001363410.1:c.453G>T NP_001350339.1:p.Leu151Phe
NM_001363410.2:c.453G>T NP_001350339.1:p.Leu151Phe
NM_001363411.1:c.84G>T NP_001350340.1:p.Leu28Phe
NM_001363411.2:c.84G>T NP_001350340.1:p.Leu28Phe
NM_001363412.1:c.390G>T NP_001350341.1:p.Leu130Phe
NM_001363412.2:c.390G>T NP_001350341.1:p.Leu130Phe
NM_001363413.1:c.-4G>T NP_001350342.1:n.-4G>T
NM_001363413.2:c.-4G>T NP_001350342.1:n.-4G>T
NM_022458.3:c.453G>T NP_071903.2:p.Leu151Phe
NR_146958.1:n.668G>T
NR_146958.2:n.643G>T
NR_146959.1:n.668G>T
NR_146959.2:n.643G>T
ENST00000353442.9:c.453G>T ENSP00000326604.7:p.Leu151Phe
ENST00000359422.8:c.-4G>T ENSP00000352392.4:n.-4G>T
ENST00000415428.5:c.447G>T ENSP00000408256.1:p.Leu149Phe
ENST00000430278.5:n.359G>T
ENST00000434278.5:c.*196G>T ENSP00000413539.1:n.*196G>T
ENST00000434503.5:c.169G>T ENSP00000395754.1:p.Gly57Cys
ENST00000444719.5:c.*275G>T ENSP00000393928.1:n.*275G>T
ENST00000448926.5:c.213G>T ENSP00000403052.1:n.213G>T
ENST00000454132.5:c.*490G>T ENSP00000414795.1:n.*490G>T
ENST00000461469.5:n.497G>T
ENST00000650699.1:c.-4G>T ENSP00000498334.1:n.-4G>T
XM_005249555.2:c.453G>T XP_005249612.1:p.Leu151Phe
XM_005249556.2:c.-4G>T XP_005249613.1:n.-4G>T
XM_005249558.2:c.453G>T XP_005249615.1:p.Leu151Phe
XM_011516462.1:c.174G>T XP_011514764.1:p.Leu58Phe
XM_017012515.2:c.453G>T XP_016868004.1:p.Leu151Phe
XR_001744847.1:n.643G>T
XR_001744848.1:n.643G>T
XR_001744850.1:n.643G>T
XR_002956477.1:n.643G>T
XR_002956478.1:n.643G>T
XR_002956479.1:n.502G>T
XR_002956480.1:n.643G>T
XR_002956481.1:n.721G>T
XR_002956482.1:n.464G>T
XR_428185.1:n.643G>T
XR_927508.1:n.643G>T