Canonical Allele Identifier: CA7797069

Gene: LMF1

Linked Data

• ClinVar Variation Id: 1769812
• ClinVar RCV Id: RCV002385595 ; RCV003718584 ; RCV003896164
• dbSNP Id: rs121909397
• ExAC: 16:919982 G / A
• gnomAD v2: 16-919982-G-A
• gnomAD v3: 16-869982-G-A
• gnomAD v4: 16-869982-G-A
• MyVariant Identifiers: chr16:g.919982G>A (hg19) ; chr16:g.919982_919983delinsAT (hg19) ; chr16:g.869982G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262301.16:c.1317C>T MANE Select	ENSP00000262301.12:p.Tyr439=
ENST00000262301.15:c.1317C>T	ENSP00000262301.11:p.Tyr439=
ENST00000543238.5:c.606C>T	ENSP00000437418.1:p.Tyr202=
ENST00000545827.6:c.*854C>T	ENSP00000443820.2:n.*854C>T
ENST00000568897.5:c.666C>T	ENSP00000458135.1:p.Tyr222=
ENST00000569516.5:n.2939C>T
ENST00000570168.1:n.106C>T
NM_022773.2:c.1317C>T	NP_073610.2:p.Tyr439=
NR_033645.1:n.1450C>T
NR_033646.1:n.1628C>T
XM_006720926.2:c.1143C>T	XP_006720989.1:p.Tyr381=
XM_006720928.1:c.990C>T	XP_006720991.1:p.Tyr330=
XM_006720929.2:c.918C>T	XP_006720992.1:p.Tyr306=
XM_011522614.1:c.1317C>T	XP_011520916.1:p.Tyr439=
XM_011522616.1:c.873C>T	XP_011520918.1:p.Tyr291=
XM_011522617.1:c.666C>T	XP_011520919.1:p.Tyr222=
XR_429646.2:n.1488C>T
XR_932903.1:n.1319C>T
XR_932904.1:n.1319C>T
NM_001352017.1:c.666C>T	NP_001338946.1:p.Tyr222=
NM_001352018.1:c.918C>T	NP_001338947.1:p.Tyr306=
NM_001352019.1:c.990C>T	NP_001338948.1:p.Tyr330=
NM_001352020.1:c.1317C>T	NP_001338949.1:p.Tyr439=
NM_001352021.1:c.666C>T	NP_001338950.1:p.Tyr222=
NM_022773.3:c.1317C>T	NP_073610.2:p.Tyr439=
NR_147885.1:n.1336C>T
XM_006720929.4:c.918C>T	XP_006720992.1:p.Tyr306=
XM_011522614.3:c.1317C>T	XP_011520916.1:p.Tyr439=
XM_011522617.2:c.666C>T	XP_011520919.1:p.Tyr222=
XM_017023575.2:c.1317C>T	XP_016879064.1:p.Tyr439=
XM_017023576.1:c.1083C>T	XP_016879065.1:p.Tyr361=
XM_017023578.1:c.681C>T	XP_016879067.1:p.Tyr227=
XM_017023580.1:c.666C>T	XP_016879069.1:p.Tyr222=
XM_024450396.1:c.990C>T	XP_024306164.1:p.Tyr330=
XM_024450397.1:c.666C>T	XP_024306165.1:p.Tyr222=
XR_001751966.2:n.1489C>T
XR_002957835.1:n.3223C>T
XR_429646.4:n.1489C>T
XR_932903.3:n.1320C>T
NM_001352017.2:c.666C>T	NP_001338946.1:p.Tyr222=
NM_001352018.2:c.918C>T	NP_001338947.1:p.Tyr306=
NM_001352019.2:c.990C>T	NP_001338948.1:p.Tyr330=
NM_001352021.2:c.666C>T	NP_001338950.1:p.Tyr222=
NM_022773.4:c.1317C>T MANE Select	NP_073610.2:p.Tyr439=
NR_147885.2:n.1321C>T