Canonical Allele Identifier: CA229177

Gene: LMBR1

Linked Data

• ClinVar Variation Id: 100875
• ClinVar RCV Id: RCV000087237
• dbSNP Id: rs483352752
• MyVariant Identifiers: chr7:g.156556453G>T (hg19) ; chr7:g.156763759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156763759G>T , CM000669.2:g.156763759G>T	GRCh38
NC_000007.13:g.156556453G>T , CM000669.1:g.156556453G>T	GRCh37
NC_000007.12:g.156249214G>T	NCBI36
NG_009240.1:g.134450C>A
NG_009240.2:g.134450C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353442.10:c.460C>A MANE Select	ENSP00000326604.7:p.Leu154Ile
ENST00000650699.1:c.4C>A	ENSP00000498334.1:p.Leu2Ile
ENST00000353442.9:c.460C>A	ENSP00000326604.7:p.Leu154Ile
ENST00000359422.8:c.4C>A	ENSP00000352392.4:p.Leu2Ile
ENST00000415428.5:c.454C>A	ENSP00000408256.1:p.Leu152Ile
ENST00000430278.5:n.366C>A
ENST00000434278.5:c.*203C>A	ENSP00000413539.1:n.*203C>A
ENST00000434503.5:c.176C>A	ENSP00000395754.1:p.Ala59Asp
ENST00000444719.5:c.*282C>A	ENSP00000393928.1:n.*282C>A
ENST00000448926.5:c.220C>A	ENSP00000403052.1:n.220C>A
ENST00000454132.5:c.*497C>A	ENSP00000414795.1:n.*497C>A
ENST00000461469.5:n.504C>A
NM_022458.3:c.460C>A	NP_071903.2:p.Leu154Ile
XM_005249555.2:c.460C>A	XP_005249612.1:p.Leu154Ile
XM_005249556.2:c.4C>A	XP_005249613.1:p.Leu2Ile
XM_005249558.2:c.460C>A	XP_005249615.1:p.Leu154Ile
XM_011516462.1:c.181C>A	XP_011514764.1:p.Leu61Ile
XR_428185.1:n.650C>A
XR_927508.1:n.650C>A
NM_001350953.1:c.460C>A	NP_001337882.1:p.Leu154Ile
NM_001350954.1:c.181C>A	NP_001337883.1:p.Leu61Ile
NM_001350955.1:c.4C>A	NP_001337884.1:p.Leu2Ile
NM_001350956.1:c.4C>A	NP_001337885.1:p.Leu2Ile
NM_001350957.1:c.91C>A	NP_001337886.1:p.Leu31Ile
NM_001350958.1:c.4C>A	NP_001337887.1:p.Leu2Ile
NM_001363409.1:c.460C>A	NP_001350338.1:p.Leu154Ile
NM_001363410.1:c.460C>A	NP_001350339.1:p.Leu154Ile
NM_001363411.1:c.91C>A	NP_001350340.1:p.Leu31Ile
NM_001363412.1:c.397C>A	NP_001350341.1:p.Leu133Ile
NM_001363413.1:c.4C>A	NP_001350342.1:p.Leu2Ile
NR_146958.1:n.675C>A
NR_146959.1:n.675C>A
XM_017012515.2:c.460C>A	XP_016868004.1:p.Leu154Ile
XR_001744847.1:n.650C>A
XR_001744848.1:n.650C>A
XR_001744850.1:n.650C>A
XR_002956477.1:n.650C>A
XR_002956478.1:n.650C>A
XR_002956479.1:n.509C>A
XR_002956480.1:n.650C>A
XR_002956481.1:n.728C>A
XR_002956482.1:n.471C>A
NM_001350953.2:c.460C>A	NP_001337882.1:p.Leu154Ile
NM_001350954.2:c.181C>A	NP_001337883.1:p.Leu61Ile
NM_001350955.2:c.4C>A	NP_001337884.1:p.Leu2Ile
NM_001350956.2:c.4C>A	NP_001337885.1:p.Leu2Ile
NM_001350957.2:c.91C>A	NP_001337886.1:p.Leu31Ile
NM_001350958.2:c.4C>A	NP_001337887.1:p.Leu2Ile
NM_001363409.2:c.460C>A	NP_001350338.1:p.Leu154Ile
NM_001363410.2:c.460C>A	NP_001350339.1:p.Leu154Ile
NM_001363411.2:c.91C>A	NP_001350340.1:p.Leu31Ile
NM_001363412.2:c.397C>A	NP_001350341.1:p.Leu133Ile
NM_001363413.2:c.4C>A	NP_001350342.1:p.Leu2Ile
NM_022458.4:c.460C>A MANE Select	NP_071903.2:p.Leu154Ile
NR_146958.2:n.650C>A
NR_146959.2:n.650C>A