Canonical Allele Identifier: CA370149724

Gene: LMBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156736550C>G , CM000669.2:g.156736550C>G	GRCh38
NC_000007.13:g.156529244C>G , CM000669.1:g.156529244C>G	GRCh37
NC_000007.12:g.156222005C>G	NCBI36
NG_009240.1:g.161659G>C
NG_009240.2:g.161659G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022458.4:c.758-2293G>C MANE Select	NP_071903.2:n.758-2293G>C
ENST00000353442.10:c.758-2293G>C MANE Select	ENSP00000326604.7:n.758-2293G>C
NM_001350953.1:c.823G>C	NP_001337882.1:p.Gly275Arg
NM_001350953.2:c.823G>C	NP_001337882.1:p.Gly275Arg
NM_001350954.1:c.479-2293G>C	NP_001337883.1:n.479-2293G>C
NM_001350954.2:c.479-2293G>C	NP_001337883.1:n.479-2293G>C
NM_001350955.1:c.302-2293G>C	NP_001337884.1:n.302-2293G>C
NM_001350955.2:c.302-2293G>C	NP_001337884.1:n.302-2293G>C
NM_001350956.1:c.302-2293G>C	NP_001337885.1:n.302-2293G>C
NM_001350956.2:c.302-2293G>C	NP_001337885.1:n.302-2293G>C
NM_001350957.1:c.389-2293G>C	NP_001337886.1:n.389-2293G>C
NM_001350957.2:c.389-2293G>C	NP_001337886.1:n.389-2293G>C
NM_001350958.1:c.302-2293G>C	NP_001337887.1:n.302-2293G>C
NM_001350958.2:c.302-2293G>C	NP_001337887.1:n.302-2293G>C
NM_001363409.1:c.823G>C	NP_001350338.1:p.Gly275Arg
NM_001363409.2:c.823G>C	NP_001350338.1:p.Gly275Arg
NM_001363410.1:c.758-2293G>C	NP_001350339.1:n.758-2293G>C
NM_001363410.2:c.758-2293G>C	NP_001350339.1:n.758-2293G>C
NM_001363411.1:c.389-2293G>C	NP_001350340.1:n.389-2293G>C
NM_001363411.2:c.389-2293G>C	NP_001350340.1:n.389-2293G>C
NM_001363412.1:c.695-2293G>C	NP_001350341.1:n.695-2293G>C
NM_001363412.2:c.695-2293G>C	NP_001350341.1:n.695-2293G>C
NM_001363413.1:c.302-2293G>C	NP_001350342.1:n.302-2293G>C
NM_001363413.2:c.302-2293G>C	NP_001350342.1:n.302-2293G>C
NM_022458.3:c.758-2293G>C	NP_071903.2:n.758-2293G>C
NR_146958.1:n.973-2293G>C
NR_146958.2:n.948-2293G>C
NR_146959.1:n.973-2293G>C
NR_146959.2:n.948-2293G>C
ENST00000353442.9:c.758-2293G>C	ENSP00000326604.7:n.758-2293G>C
ENST00000359422.8:c.302-2293G>C	ENSP00000352392.4:n.302-2293G>C
ENST00000415428.5:c.817G>C	ENSP00000408256.1:p.Gly273Arg
ENST00000434503.5:c.*240-2293G>C	ENSP00000395754.1:n.*240-2293G>C
ENST00000448926.5:c.518-2293G>C	ENSP00000403052.1:n.518-2293G>C
ENST00000454132.5:c.*795-2293G>C	ENSP00000414795.1:n.*795-2293G>C
ENST00000461603.5:n.56-2293G>C
ENST00000477983.1:n.209-2293G>C
ENST00000650699.1:c.302-2293G>C	ENSP00000498334.1:n.302-2293G>C
XM_005249555.2:c.758-2293G>C	XP_005249612.1:n.758-2293G>C
XM_005249556.2:c.302-2293G>C	XP_005249613.1:n.302-2293G>C
XM_005249558.2:c.758-2293G>C	XP_005249615.1:n.758-2293G>C
XM_011516462.1:c.479-2293G>C	XP_011514764.1:n.479-2293G>C
XM_017012515.2:c.823G>C	XP_016868004.1:p.Gly275Arg
XR_001744847.1:n.1013G>C
XR_001744848.1:n.1013G>C
XR_001744850.1:n.1013G>C
XR_002956477.1:n.948-2293G>C
XR_002956478.1:n.1013G>C
XR_002956479.1:n.872G>C
XR_002956480.1:n.948-2293G>C
XR_002956481.1:n.1026-2293G>C
XR_002956482.1:n.769-2293G>C
XR_428185.1:n.948-2293G>C
XR_927508.1:n.948-2293G>C