Canonical Allele Identifier: CA2123468034
Community Standard Title: NM_000257.4(MYH7):c.4499G= (p.Arg1500=)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417173C= , CM000676.2:g.23417173C= GRCh38
NC_000014.8:g.23886382C= , CM000676.1:g.23886382C= GRCh37
NC_000014.7:g.22956222C= NCBI36
NG_007884.1:g.23489G= , LRG_384:g.23489G=

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.4499G= (MYH7) MANE Select NP_000248.2:p.Arg1500=
ENST00000355349.4:c.4499G= (MYH7) MANE Select ENSP00000347507.3:p.Arg1500=
NM_000257.3:c.4499G= (MYH7) NP_000248.2:p.Arg1500=
NR_126491.1:n.652-39C= (MHRT)
ENST00000355349.3:c.4499G= (MYH7) ENSP00000347507.3:p.Arg1500=
XM_017021340.1:c.4499G= (MYH7) XP_016876829.1:p.Arg1500=