Canonical Allele Identifier: CA389050242
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23897091T>A (hg19) chr14:g.23427882T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427882T>A , CM000676.2:g.23427882T>A GRCh38
NC_000014.8:g.23897091T>A , CM000676.1:g.23897091T>A GRCh37
NC_000014.7:g.22966931T>A NCBI36
NG_007884.1:g.12780A>T , LRG_384:g.12780A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1591A>T MANE Select ENSP00000347507.3:p.Met531Leu
ENST00000355349.3:c.1591A>T ENSP00000347507.3:p.Met531Leu
NM_000257.3:c.1591A>T NP_000248.2:p.Met531Leu
XR_245686.3:n.1697A>T
XM_017021340.1:c.1591A>T XP_016876829.1:p.Met531Leu
NM_000257.4:c.1591A>T MANE Select NP_000248.2:p.Met531Leu
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