Canonical Allele Identifier: CA4588094

Gene: LMBR1

Linked Data

• ClinVar Variation Id: 283852
• ClinVar RCV Id: RCV000274966 ; RCV000302035 ; RCV000955386
• dbSNP Id: rs138255184
• ExAC: 7:156556385 G / C
• gnomAD v2: 7-156556385-G-C
• gnomAD v3: 7-156763691-G-C
• gnomAD v4: 7-156763691-G-C
• MyVariant Identifiers: chr7:g.156556385G>C (hg19) ; chr7:g.156763691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156763691G>C , CM000669.2:g.156763691G>C	GRCh38
NC_000007.13:g.156556385G>C , CM000669.1:g.156556385G>C	GRCh37
NC_000007.12:g.156249146G>C	NCBI36
NG_009240.1:g.134518C>G
NG_009240.2:g.134518C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353442.10:c.528C>G MANE Select	ENSP00000326604.7:p.Ala176=
ENST00000650699.1:c.72C>G	ENSP00000498334.1:p.Ala24=
ENST00000353442.9:c.528C>G	ENSP00000326604.7:p.Ala176=
ENST00000359422.8:c.72C>G	ENSP00000352392.4:p.Ala24=
ENST00000415428.5:c.522C>G	ENSP00000408256.1:p.Ala174=
ENST00000430278.5:n.434C>G
ENST00000434278.5:c.*271C>G	ENSP00000413539.1:n.*271C>G
ENST00000434503.5:c.*10C>G	ENSP00000395754.1:n.*10C>G
ENST00000444719.5:c.*350C>G	ENSP00000393928.1:n.*350C>G
ENST00000448926.5:c.288C>G	ENSP00000403052.1:n.288C>G
ENST00000454132.5:c.*565C>G	ENSP00000414795.1:n.*565C>G
NM_022458.3:c.528C>G	NP_071903.2:p.Ala176=
XM_005249555.2:c.528C>G	XP_005249612.1:p.Ala176=
XM_005249556.2:c.72C>G	XP_005249613.1:p.Ala24=
XM_005249558.2:c.528C>G	XP_005249615.1:p.Ala176=
XM_011516462.1:c.249C>G	XP_011514764.1:p.Ala83=
XR_428185.1:n.718C>G
XR_927508.1:n.718C>G
NM_001350953.1:c.528C>G	NP_001337882.1:p.Ala176=
NM_001350954.1:c.249C>G	NP_001337883.1:p.Ala83=
NM_001350955.1:c.72C>G	NP_001337884.1:p.Ala24=
NM_001350956.1:c.72C>G	NP_001337885.1:p.Ala24=
NM_001350957.1:c.159C>G	NP_001337886.1:p.Ala53=
NM_001350958.1:c.72C>G	NP_001337887.1:p.Ala24=
NM_001363409.1:c.528C>G	NP_001350338.1:p.Ala176=
NM_001363410.1:c.528C>G	NP_001350339.1:p.Ala176=
NM_001363411.1:c.159C>G	NP_001350340.1:p.Ala53=
NM_001363412.1:c.465C>G	NP_001350341.1:p.Ala155=
NM_001363413.1:c.72C>G	NP_001350342.1:p.Ala24=
NR_146958.1:n.743C>G
NR_146959.1:n.743C>G
XM_017012515.2:c.528C>G	XP_016868004.1:p.Ala176=
XR_001744847.1:n.718C>G
XR_001744848.1:n.718C>G
XR_001744850.1:n.718C>G
XR_002956477.1:n.718C>G
XR_002956478.1:n.718C>G
XR_002956479.1:n.577C>G
XR_002956480.1:n.718C>G
XR_002956481.1:n.796C>G
XR_002956482.1:n.539C>G
NM_001350953.2:c.528C>G	NP_001337882.1:p.Ala176=
NM_001350954.2:c.249C>G	NP_001337883.1:p.Ala83=
NM_001350955.2:c.72C>G	NP_001337884.1:p.Ala24=
NM_001350956.2:c.72C>G	NP_001337885.1:p.Ala24=
NM_001350957.2:c.159C>G	NP_001337886.1:p.Ala53=
NM_001350958.2:c.72C>G	NP_001337887.1:p.Ala24=
NM_001363409.2:c.528C>G	NP_001350338.1:p.Ala176=
NM_001363410.2:c.528C>G	NP_001350339.1:p.Ala176=
NM_001363411.2:c.159C>G	NP_001350340.1:p.Ala53=
NM_001363412.2:c.465C>G	NP_001350341.1:p.Ala155=
NM_001363413.2:c.72C>G	NP_001350342.1:p.Ala24=
NM_022458.4:c.528C>G MANE Select	NP_071903.2:p.Ala176=
NR_146958.2:n.718C>G
NR_146959.2:n.718C>G