Canonical Allele Identifier: CA114516

Gene: LMF1

Linked Data

• ClinVar Variation Id: 792
• ClinVar RCV Id: RCV000000828 ; RCV002512620
• dbSNP Id: rs121909397
• gnomAD v4: 16-869982-G-C
• MyVariant Identifiers: chr16:g.919982G>C (hg19) ; chr16:g.869982G>C (hg38)
• PubMed: PMID:17994020

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.869982G>C , CM000678.2:g.869982G>C	GRCh38
NC_000016.9:g.919982G>C , CM000678.1:g.919982G>C	GRCh37
NC_000016.8:g.859983G>C	NCBI36
NG_021286.1:g.116337C>G
NG_021286.2:g.116634C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262301.16:c.1317C>G MANE Select	ENSP00000262301.12:p.Tyr439Ter
ENST00000262301.15:c.1317C>G	ENSP00000262301.11:p.Tyr439Ter
ENST00000543238.5:c.606C>G	ENSP00000437418.1:p.Tyr202Ter
ENST00000545827.6:c.*854C>G	ENSP00000443820.2:n.*854C>G
ENST00000568897.5:c.666C>G	ENSP00000458135.1:p.Tyr222Ter
ENST00000569516.5:n.2939C>G
ENST00000570168.1:n.106C>G
NM_022773.2:c.1317C>G	NP_073610.2:p.Tyr439Ter
NR_033645.1:n.1450C>G
NR_033646.1:n.1628C>G
XM_006720926.2:c.1143C>G	XP_006720989.1:p.Tyr381Ter
XM_006720928.1:c.990C>G	XP_006720991.1:p.Tyr330Ter
XM_006720929.2:c.918C>G	XP_006720992.1:p.Tyr306Ter
XM_011522614.1:c.1317C>G	XP_011520916.1:p.Tyr439Ter
XM_011522616.1:c.873C>G	XP_011520918.1:p.Tyr291Ter
XM_011522617.1:c.666C>G	XP_011520919.1:p.Tyr222Ter
XR_429646.2:n.1488C>G
XR_932903.1:n.1319C>G
XR_932904.1:n.1319C>G
NM_001352017.1:c.666C>G	NP_001338946.1:p.Tyr222Ter
NM_001352018.1:c.918C>G	NP_001338947.1:p.Tyr306Ter
NM_001352019.1:c.990C>G	NP_001338948.1:p.Tyr330Ter
NM_001352020.1:c.1317C>G	NP_001338949.1:p.Tyr439Ter
NM_001352021.1:c.666C>G	NP_001338950.1:p.Tyr222Ter
NM_022773.3:c.1317C>G	NP_073610.2:p.Tyr439Ter
NR_147885.1:n.1336C>G
XM_006720929.4:c.918C>G	XP_006720992.1:p.Tyr306Ter
XM_011522614.3:c.1317C>G	XP_011520916.1:p.Tyr439Ter
XM_011522617.2:c.666C>G	XP_011520919.1:p.Tyr222Ter
XM_017023575.2:c.1317C>G	XP_016879064.1:p.Tyr439Ter
XM_017023576.1:c.1083C>G	XP_016879065.1:p.Tyr361Ter
XM_017023578.1:c.681C>G	XP_016879067.1:p.Tyr227Ter
XM_017023580.1:c.666C>G	XP_016879069.1:p.Tyr222Ter
XM_024450396.1:c.990C>G	XP_024306164.1:p.Tyr330Ter
XM_024450397.1:c.666C>G	XP_024306165.1:p.Tyr222Ter
XR_001751966.2:n.1489C>G
XR_002957835.1:n.3223C>G
XR_429646.4:n.1489C>G
XR_932903.3:n.1320C>G
NM_001352017.2:c.666C>G	NP_001338946.1:p.Tyr222Ter
NM_001352018.2:c.918C>G	NP_001338947.1:p.Tyr306Ter
NM_001352019.2:c.990C>G	NP_001338948.1:p.Tyr330Ter
NM_001352021.2:c.666C>G	NP_001338950.1:p.Tyr222Ter
NM_022773.4:c.1317C>G MANE Select	NP_073610.2:p.Tyr439Ter
NR_147885.2:n.1321C>G