Canonical Allele Identifier: CA389037545

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416122A>T , CM000676.2:g.23416122A>T GRCh38
NC_000014.8:g.23885331A>T , CM000676.1:g.23885331A>T GRCh37
NC_000014.7:g.22955171A>T NCBI36
NG_007884.1:g.24540T>A , LRG_384:g.24540T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4835T>A (MYH7) MANE Select ENSP00000347507.3:p.Leu1612Gln
ENST00000355349.3:c.4835T>A (MYH7) ENSP00000347507.3:p.Leu1612Gln
NM_000257.3:c.4835T>A (MYH7) NP_000248.2:p.Leu1612Gln
NR_126491.1:n.383A>T (MHRT)
XM_017021340.1:c.4835T>A (MYH7) XP_016876829.1:p.Leu1612Gln
NM_000257.4:c.4835T>A (MYH7) MANE Select NP_000248.2:p.Leu1612Gln