Canonical Allele Identifier: CA3390817

Gene: LMNB1

Linked Data

• ClinVar Variation Id: 350622
• ClinVar RCV Id: RCV000369546 ; RCV001683395
• dbSNP Id: rs1051643
• ExAC: 5:126171999 T / C
• gnomAD v2: 5-126171999-T-C
• gnomAD v3: 5-126836307-T-C
• gnomAD v4: 5-126836307-T-C
• MyVariant Identifiers: chr5:g.126171999T>C (hg19) ; chr5:g.126836307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126836307T>C , CM000667.2:g.126836307T>C	GRCh38
NC_000005.9:g.126171999T>C , CM000667.1:g.126171999T>C	GRCh37
NC_000005.8:g.126199898T>C	NCBI36
NG_008360.2:g.64167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261366.10:c.*43T>C MANE Select	ENSP00000261366.5:n.*43T>C
ENST00000261366.9:c.*43T>C	ENSP00000261366.5:n.*43T>C
ENST00000460265.5:c.*892T>C	ENSP00000486528.1:n.*892T>C
ENST00000504788.5:n.1537T>C
NM_001198557.1:c.*43T>C	NP_001185486.1:n.*43T>C
NM_005573.3:c.*43T>C	NP_005564.1:n.*43T>C
XR_948250.1:n.2246T>C
NR_134488.1:n.2768T>C
NM_005573.4:c.*43T>C MANE Select	NP_005564.1:n.*43T>C
NM_001198557.2:c.*43T>C	NP_001185486.1:n.*43T>C