Canonical Allele Identifier: CA405684576
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068625C>T (hg19) chr19:g.38577985C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577985C>T , CM000681.2:g.38577985C>T GRCh38
NC_000019.9:g.39068625C>T , CM000681.1:g.39068625C>T GRCh37
NC_000019.8:g.43760465C>T NCBI36
NG_008866.1:g.149286C>T , LRG_766:g.149286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1176C>T
ENST00000688602.1:c.2573C>T
ENST00000689936.1:c.2545C>T
ENST00000359596.8:c.14240C>T MANE Select ENSP00000352608.2:p.Ala4747Val
ENST00000355481.8:c.14225C>T ENSP00000347667.3:p.Ala4742Val
ENST00000359596.7:c.14240C>T ENSP00000352608.2:p.Ala4747Val
ENST00000360985.7:c.14222C>T ENSP00000354254.4:p.Ala4741Val
NM_000540.2:c.14240C>T , LRG_766t1:c.14240C>T NP_000531.2:p.Ala4747Val
NM_001042723.1:c.14225C>T NP_001036188.1:p.Ala4742Val
XM_006723317.1:c.14222C>T XP_006723380.1:p.Ala4741Val
XM_006723319.1:c.14207C>T XP_006723382.1:p.Ala4736Val
XM_011527204.1:c.14237C>T XP_011525506.1:p.Ala4746Val
XM_011527205.1:c.14153C>T XP_011525507.1:p.Ala4718Val
XM_006723317.2:c.14222C>T XP_006723380.1:p.Ala4741Val
XM_006723319.2:c.14207C>T XP_006723382.1:p.Ala4736Val
XM_011527205.2:c.14153C>T XP_011525507.1:p.Ala4718Val
NM_000540.3:c.14240C>T MANE Select NP_000531.2:p.Ala4747Val
NM_001042723.2:c.14225C>T NP_001036188.1:p.Ala4742Val
Search 100 bp 5'
Search 100 bp 3'