Canonical Allele Identifier: CA217396

Gene: LMNB1

Linked Data

• ClinVar Variation Id: 66612
• ClinVar RCV Id: RCV000057046 ; RCV000298597
• dbSNP Id: rs2230151
• ExAC: 5:126171974 C / T
• gnomAD v2: 5-126171974-C-T
• gnomAD v3: 5-126836282-C-T
• gnomAD v4: 5-126836282-C-T
• MyVariant Identifiers: chr5:g.126171974C>T (hg19) ; chr5:g.126836282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126836282C>T , CM000667.2:g.126836282C>T	GRCh38
NC_000005.9:g.126171974C>T , CM000667.1:g.126171974C>T	GRCh37
NC_000005.8:g.126199873C>T	NCBI36
NG_008360.2:g.64142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261366.10:c.*18C>T MANE Select	ENSP00000261366.5:n.*18C>T
ENST00000261366.9:c.*18C>T	ENSP00000261366.5:n.*18C>T
ENST00000460265.5:c.*867C>T	ENSP00000486528.1:n.*867C>T
ENST00000504788.5:n.1512C>T
NM_001198557.1:c.*18C>T	NP_001185486.1:n.*18C>T
NM_005573.3:c.*18C>T	NP_005564.1:n.*18C>T
XR_948250.1:n.2221C>T
NR_134488.1:n.2743C>T
NM_005573.4:c.*18C>T MANE Select	NP_005564.1:n.*18C>T
NM_001198557.2:c.*18C>T	NP_001185486.1:n.*18C>T