Canonical Allele Identifier: CA405692517
Community Standard Title: NM_000540.3(RYR1):c.14863A>G (p.Met4955Val)
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585997A>G , CM000681.2:g.38585997A>G GRCh38
NC_000019.9:g.39076637A>G , CM000681.1:g.39076637A>G GRCh37
NC_000019.8:g.43768477A>G NCBI36
NG_008866.1:g.157298A>G , LRG_766:g.157298A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14863A>G MANE Select NP_000531.2:p.Met4955Val
ENST00000359596.8:c.14863A>G MANE Select ENSP00000352608.2:p.Met4955Val
NM_000540.2:c.14863A>G , LRG_766t1:c.14863A>G NP_000531.2:p.Met4955Val
NM_001042723.1:c.14848A>G NP_001036188.1:p.Met4950Val
NM_001042723.2:c.14848A>G NP_001036188.1:p.Met4950Val
ENST00000355481.8:c.14848A>G ENSP00000347667.3:p.Met4950Val
ENST00000359596.7:c.14863A>G ENSP00000352608.2:p.Met4955Val
ENST00000360985.7:c.14845A>G ENSP00000354254.4:p.Met4949Val
ENST00000593677.2:c.1799A>G
ENST00000688602.1:c.3196A>G
ENST00000689936.1:c.3168A>G
ENST00000692547.1:n.256A>G
XM_006723317.1:c.14845A>G XP_006723380.1:p.Met4949Val
XM_006723317.2:c.14845A>G XP_006723380.1:p.Met4949Val
XM_006723319.1:c.14830A>G XP_006723382.1:p.Met4944Val
XM_006723319.2:c.14830A>G XP_006723382.1:p.Met4944Val
XM_011527204.1:c.14860A>G XP_011525506.1:p.Met4954Val
XM_011527205.1:c.14776A>G XP_011525507.1:p.Met4926Val
XM_011527205.2:c.14776A>G XP_011525507.1:p.Met4926Val
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