Canonical Allele Identifier: CA405682149
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063868T>G (hg19) chr19:g.38573228T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573228T>G , CM000681.2:g.38573228T>G GRCh38
NC_000019.9:g.39063868T>G , CM000681.1:g.39063868T>G GRCh37
NC_000019.8:g.43755708T>G NCBI36
NG_008866.1:g.144529T>G , LRG_766:g.144529T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.986T>G
ENST00000688602.1:c.2383T>G
ENST00000689936.1:c.2355T>G
ENST00000359596.8:c.14050T>G MANE Select ENSP00000352608.2:p.Phe4684Val
ENST00000355481.8:c.14035T>G ENSP00000347667.3:p.Phe4679Val
ENST00000359596.7:c.14050T>G ENSP00000352608.2:p.Phe4684Val
ENST00000360985.7:c.14032T>G ENSP00000354254.4:p.Phe4678Val
NM_000540.2:c.14050T>G , LRG_766t1:c.14050T>G NP_000531.2:p.Phe4684Val
NM_001042723.1:c.14035T>G NP_001036188.1:p.Phe4679Val
XM_006723317.1:c.14032T>G XP_006723380.1:p.Phe4678Val
XM_006723319.1:c.14017T>G XP_006723382.1:p.Phe4673Val
XM_011527204.1:c.14047T>G XP_011525506.1:p.Phe4683Val
XM_011527205.1:c.13963T>G XP_011525507.1:p.Phe4655Val
XM_006723317.2:c.14032T>G XP_006723380.1:p.Phe4678Val
XM_006723319.2:c.14017T>G XP_006723382.1:p.Phe4673Val
XM_011527205.2:c.13963T>G XP_011525507.1:p.Phe4655Val
NM_000540.3:c.14050T>G MANE Select NP_000531.2:p.Phe4684Val
NM_001042723.2:c.14035T>G NP_001036188.1:p.Phe4679Val
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