Canonical Allele Identifier: CA2123465782

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416210T= , CM000676.2:g.23416210T= GRCh38
NC_000014.8:g.23885419T= , CM000676.1:g.23885419T= GRCh37
NC_000014.7:g.22955259T= NCBI36
NG_007884.1:g.24452A= , LRG_384:g.24452A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4747A= (MYH7) MANE Select ENSP00000347507.3:p.Met1583=
ENST00000355349.3:c.4747A= (MYH7) ENSP00000347507.3:p.Met1583=
NM_000257.3:c.4747A= (MYH7) NP_000248.2:p.Met1583=
NR_126491.1:n.471T= (MHRT)
XM_017021340.1:c.4747A= (MYH7) XP_016876829.1:p.Met1583=
NM_000257.4:c.4747A= (MYH7) MANE Select NP_000248.2:p.Met1583=