Canonical Allele Identifier: CA8875237
Community Standard Title: NM_003803.4(MYOM1):c.461C>T (p.Thr154Met)
Gene: MYOM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.3189058G>A , CM000680.2:g.3189058G>A GRCh38
NC_000018.9:g.3189056G>A , CM000680.1:g.3189056G>A GRCh37
NC_000018.8:g.3179056G>A NCBI36
NG_032120.1:g.36051C>T , LRG_426:g.36051C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003803.4:c.461C>T MANE Select NP_003794.3:p.Thr154Met
ENST00000356443.9:c.461C>T MANE Select ENSP00000348821.4:p.Thr154Met
NM_003803.3:c.461C>T , LRG_426t1:c.461C>T NP_003794.3:p.Thr154Met
NM_019856.1:c.461C>T NP_062830.1:p.Thr154Met
NM_019856.2:c.461C>T NP_062830.1:p.Thr154Met
ENST00000261606.11:c.461C>T ENSP00000261606.7:p.Thr154Met
ENST00000356443.8:c.461C>T ENSP00000348821.4:p.Thr154Met
ENST00000400569.7:c.53C>T ENSP00000383413.4:p.Thr18Met
XM_017026062.1:c.461C>T XP_016881551.1:p.Thr154Met
XM_024451281.1:c.560C>T XP_024307049.1:p.Thr187Met
XR_935071.1:n.558C>T
XR_935071.2:n.558C>T