Canonical Allele Identifier: CA389038249

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417158A>G , CM000676.2:g.23417158A>G GRCh38
NC_000014.8:g.23886367A>G , CM000676.1:g.23886367A>G GRCh37
NC_000014.7:g.22956207A>G NCBI36
NG_007884.1:g.23504T>C , LRG_384:g.23504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4514T>C (MYH7) MANE Select ENSP00000347507.3:p.Leu1505Pro
ENST00000355349.3:c.4514T>C (MYH7) ENSP00000347507.3:p.Leu1505Pro
NM_000257.3:c.4514T>C (MYH7) NP_000248.2:p.Leu1505Pro
NR_126491.1:n.652-54A>G (MHRT)
XM_017021340.1:c.4514T>C (MYH7) XP_016876829.1:p.Leu1505Pro
NM_000257.4:c.4514T>C (MYH7) MANE Select NP_000248.2:p.Leu1505Pro