Canonical Allele Identifier: CA8170195
Community Standard Title: NM_152649.4(MLKL):c.394T>C (p.Ser132Pro)
Gene: MLKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74695364A>G , CM000678.2:g.74695364A>G GRCh38
NC_000016.9:g.74729262A>G , CM000678.1:g.74729262A>G GRCh37
NC_000016.8:g.73286763A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_152649.4:c.394T>C MANE Select NP_689862.1:p.Ser132Pro
ENST00000308807.12:c.394T>C MANE Select ENSP00000308351.7:p.Ser132Pro
NM_001142497.1:c.394T>C NP_001135969.1:p.Ser132Pro
NM_001142497.2:c.394T>C NP_001135969.1:p.Ser132Pro
NM_001142497.3:c.394T>C NP_001135969.1:p.Ser132Pro
NM_152649.2:c.394T>C NP_689862.1:p.Ser132Pro
NM_152649.3:c.394T>C NP_689862.1:p.Ser132Pro
ENST00000306247.11:c.394T>C ENSP00000303118.7:p.Ser132Pro
ENST00000308807.11:c.394T>C ENSP00000308351.7:p.Ser132Pro
ENST00000573267.1:c.394T>C ENSP00000459920.1:p.Ser132Pro
XM_005255834.2:c.394T>C XP_005255891.1:p.Ser132Pro
XM_005255834.4:c.394T>C XP_005255891.1:p.Ser132Pro
XM_011522934.1:c.394T>C XP_011521236.1:p.Ser132Pro
XM_011522935.1:c.394T>C XP_011521237.1:p.Ser132Pro
XM_011522936.1:c.394T>C XP_011521238.1:p.Ser132Pro
XM_011522936.3:c.394T>C XP_011521238.1:p.Ser132Pro
XR_001751858.2:n.806T>C
XR_001751859.2:n.693T>C
XR_001751860.2:n.806T>C
XR_001751861.2:n.806T>C
XR_001751862.2:n.806T>C
XR_001751863.2:n.806T>C
XR_002957791.1:n.806T>C
XR_243397.2:n.1086T>C
XR_429715.2:n.1086T>C
XR_429715.4:n.806T>C
XR_429716.2:n.1086T>C
XR_933232.1:n.1086T>C
XR_933233.1:n.1086T>C