Canonical Allele Identifier: CA10623486

Gene: LMBR1

Linked Data

• ClinVar Variation Id: 359378
• ClinVar RCV Id: RCV000386559
• dbSNP Id: rs187134101
• gnomAD v2: 7-156474105-T-A
• gnomAD v3: 7-156681411-T-A
• gnomAD v4: 7-156681411-T-A
• MyVariant Identifiers: chr7:g.156474105T>A (hg19) ; chr7:g.156681411T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156681411T>A , CM000669.2:g.156681411T>A	GRCh38
NC_000007.13:g.156474105T>A , CM000669.1:g.156474105T>A	GRCh37
NC_000007.12:g.156166866T>A	NCBI36
NG_009240.1:g.216798A>T
NG_009240.2:g.216798A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353442.10:c.*2667A>T MANE Select	ENSP00000326604.7:n.*2667A>T
ENST00000353442.9:c.*2667A>T	ENSP00000326604.7:n.*2667A>T
ENST00000359422.8:c.*2667A>T	ENSP00000352392.4:n.*2667A>T
ENST00000430825.3:n.265+418A>T
NM_022458.3:c.*2667A>T	NP_071903.2:n.*2667A>T
XM_005249555.2:c.*2667A>T	XP_005249612.1:n.*2667A>T
XM_005249556.2:c.*2667A>T	XP_005249613.1:n.*2667A>T
XM_005249558.2:c.*2743A>T	XP_005249615.1:n.*2743A>T
XM_011516462.1:c.*2667A>T	XP_011514764.1:n.*2667A>T
XR_428185.1:n.4010A>T
XR_927508.1:n.3912+418A>T
NM_001350953.1:c.*2667A>T	NP_001337882.1:n.*2667A>T
NM_001350954.1:c.*2667A>T	NP_001337883.1:n.*2667A>T
NM_001350955.1:c.*2667A>T	NP_001337884.1:n.*2667A>T
NM_001350956.1:c.*2667A>T	NP_001337885.1:n.*2667A>T
NM_001350957.1:c.*2667A>T	NP_001337886.1:n.*2667A>T
NM_001350958.1:c.*2667A>T	NP_001337887.1:n.*2667A>T
NM_001363409.1:c.*2667A>T	NP_001350338.1:n.*2667A>T
NM_001363410.1:c.*2667A>T	NP_001350339.1:n.*2667A>T
NM_001363411.1:c.*2667A>T	NP_001350340.1:n.*2667A>T
NM_001363412.1:c.*2667A>T	NP_001350341.1:n.*2667A>T
NM_001363413.1:c.*2667A>T	NP_001350342.1:n.*2667A>T
NR_146958.1:n.4200A>T
NR_146959.1:n.3937+418A>T
XR_001744847.1:n.4035+418A>T
XR_001744848.1:n.4035+418A>T
XR_001744850.1:n.4133A>T
XR_002956477.1:n.3912+418A>T
XR_002956478.1:n.3873+418A>T
XR_002956479.1:n.3894+418A>T
XR_002956480.1:n.3750+418A>T
XR_002956481.1:n.3990+418A>T
XR_002956482.1:n.3733+418A>T
NM_001350953.2:c.*2667A>T	NP_001337882.1:n.*2667A>T
NM_001350954.2:c.*2667A>T	NP_001337883.1:n.*2667A>T
NM_001350955.2:c.*2667A>T	NP_001337884.1:n.*2667A>T
NM_001350956.2:c.*2667A>T	NP_001337885.1:n.*2667A>T
NM_001350957.2:c.*2667A>T	NP_001337886.1:n.*2667A>T
NM_001350958.2:c.*2667A>T	NP_001337887.1:n.*2667A>T
NM_001363409.2:c.*2667A>T	NP_001350338.1:n.*2667A>T
NM_001363410.2:c.*2667A>T	NP_001350339.1:n.*2667A>T
NM_001363411.2:c.*2667A>T	NP_001350340.1:n.*2667A>T
NM_001363412.2:c.*2667A>T	NP_001350341.1:n.*2667A>T
NM_001363413.2:c.*2667A>T	NP_001350342.1:n.*2667A>T
NM_022458.4:c.*2667A>T MANE Select	NP_071903.2:n.*2667A>T
NR_146958.2:n.4175A>T
NR_146959.2:n.3912+418A>T