Canonical Allele Identifier: CA398243513
Community Standard Title: NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)
Gene: MYOCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12722936C>T , CM000679.2:g.12722936C>T GRCh38
NC_000017.10:g.12626253C>T , CM000679.1:g.12626253C>T GRCh37
NC_000017.9:g.12566978C>T NCBI36
NG_012972.1:g.62047C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001146312.3:c.343C>T MANE Select NP_001139784.1:p.Arg115Ter
ENST00000425538.6:c.343C>T MANE Select ENSP00000401678.1:p.Arg115Ter
NM_001146312.2:c.343C>T NP_001139784.1:p.Arg115Ter
NM_001378306.1:c.106C>T NP_001365235.1:p.Arg36Ter
NM_153604.3:c.343C>T NP_705832.1:p.Arg115Ter
NM_153604.4:c.343C>T NP_705832.1:p.Arg115Ter
ENST00000343344.8:c.343C>T ENSP00000341835.4:p.Arg115Ter
ENST00000395988.1:n.263C>T
ENST00000425538.5:c.343C>T ENSP00000401678.1:p.Arg115Ter
XM_005256863.1:c.343C>T XP_005256920.1:p.Arg115Ter
XM_005256864.1:c.106C>T XP_005256921.1:p.Arg36Ter
XM_017025342.1:c.343C>T XP_016880831.1:p.Arg115Ter