Canonical Allele Identifier: CA389037384

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416052C>T , CM000676.2:g.23416052C>T GRCh38
NC_000014.8:g.23885261C>T , CM000676.1:g.23885261C>T GRCh37
NC_000014.7:g.22955101C>T NCBI36
NG_007884.1:g.24610G>A , LRG_384:g.24610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4905G>A (MYH7) MANE Select ENSP00000347507.3:p.Met1635Ile
ENST00000355349.3:c.4905G>A (MYH7) ENSP00000347507.3:p.Met1635Ile
NM_000257.3:c.4905G>A (MYH7) NP_000248.2:p.Met1635Ile
NR_126491.1:n.313C>T (MHRT)
XM_017021340.1:c.4905G>A (MYH7) XP_016876829.1:p.Met1635Ile
NM_000257.4:c.4905G>A (MYH7) MANE Select NP_000248.2:p.Met1635Ile