Canonical Allele Identifier: CA405687674
Community Standard Title: NM_000540.3(RYR1):c.14551C>G (p.Leu4851Val)
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580409C>G , CM000681.2:g.38580409C>G GRCh38
NC_000019.9:g.39071049C>G , CM000681.1:g.39071049C>G GRCh37
NC_000019.8:g.43762889C>G NCBI36
NG_008866.1:g.151710C>G , LRG_766:g.151710C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14551C>G MANE Select NP_000531.2:p.Leu4851Val
ENST00000359596.8:c.14551C>G MANE Select ENSP00000352608.2:p.Leu4851Val
NM_000540.2:c.14551C>G , LRG_766t1:c.14551C>G NP_000531.2:p.Leu4851Val
NM_001042723.1:c.14536C>G NP_001036188.1:p.Leu4846Val
NM_001042723.2:c.14536C>G NP_001036188.1:p.Leu4846Val
ENST00000355481.8:c.14536C>G ENSP00000347667.3:p.Leu4846Val
ENST00000359596.7:c.14551C>G ENSP00000352608.2:p.Leu4851Val
ENST00000360985.7:c.14533C>G ENSP00000354254.4:p.Leu4845Val
ENST00000593677.2:c.1487C>G
ENST00000688602.1:c.2884C>G
ENST00000689936.1:c.2856C>G
XM_006723317.1:c.14533C>G XP_006723380.1:p.Leu4845Val
XM_006723317.2:c.14533C>G XP_006723380.1:p.Leu4845Val
XM_006723319.1:c.14518C>G XP_006723382.1:p.Leu4840Val
XM_006723319.2:c.14518C>G XP_006723382.1:p.Leu4840Val
XM_011527204.1:c.14548C>G XP_011525506.1:p.Leu4850Val
XM_011527205.1:c.14464C>G XP_011525507.1:p.Leu4822Val
XM_011527205.2:c.14464C>G XP_011525507.1:p.Leu4822Val
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