Canonical Allele Identifier: CA405692511
Community Standard Title: NM_000540.3(RYR1):c.14861A>G (p.Asp4954Gly)
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585995A>G , CM000681.2:g.38585995A>G GRCh38
NC_000019.9:g.39076635A>G , CM000681.1:g.39076635A>G GRCh37
NC_000019.8:g.43768475A>G NCBI36
NG_008866.1:g.157296A>G , LRG_766:g.157296A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14861A>G MANE Select NP_000531.2:p.Asp4954Gly
ENST00000359596.8:c.14861A>G MANE Select ENSP00000352608.2:p.Asp4954Gly
NM_000540.2:c.14861A>G , LRG_766t1:c.14861A>G NP_000531.2:p.Asp4954Gly
NM_001042723.1:c.14846A>G NP_001036188.1:p.Asp4949Gly
NM_001042723.2:c.14846A>G NP_001036188.1:p.Asp4949Gly
ENST00000355481.8:c.14846A>G ENSP00000347667.3:p.Asp4949Gly
ENST00000359596.7:c.14861A>G ENSP00000352608.2:p.Asp4954Gly
ENST00000360985.7:c.14843A>G ENSP00000354254.4:p.Asp4948Gly
ENST00000593677.2:c.1797A>G
ENST00000688602.1:c.3194A>G
ENST00000689936.1:c.3166A>G
ENST00000692547.1:n.254A>G
XM_006723317.1:c.14843A>G XP_006723380.1:p.Asp4948Gly
XM_006723317.2:c.14843A>G XP_006723380.1:p.Asp4948Gly
XM_006723319.1:c.14828A>G XP_006723382.1:p.Asp4943Gly
XM_006723319.2:c.14828A>G XP_006723382.1:p.Asp4943Gly
XM_011527204.1:c.14858A>G XP_011525506.1:p.Asp4953Gly
XM_011527205.1:c.14774A>G XP_011525507.1:p.Asp4925Gly
XM_011527205.2:c.14774A>G XP_011525507.1:p.Asp4925Gly
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