Canonical Allele Identifier: CA405684761
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073608
ClinVar RCV Id: RCV004016614
MyVariant Identifiers: chr19:g.39068661C>T (hg19) chr19:g.38578021C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578021C>T , CM000681.2:g.38578021C>T GRCh38
NC_000019.9:g.39068661C>T , CM000681.1:g.39068661C>T GRCh37
NC_000019.8:g.43760501C>T NCBI36
NG_008866.1:g.149322C>T , LRG_766:g.149322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1212C>T
ENST00000688602.1:c.2609C>T
ENST00000689936.1:c.2581C>T
ENST00000359596.8:c.14276C>T MANE Select ENSP00000352608.2:p.Pro4759Leu
ENST00000355481.8:c.14261C>T ENSP00000347667.3:p.Pro4754Leu
ENST00000359596.7:c.14276C>T ENSP00000352608.2:p.Pro4759Leu
ENST00000360985.7:c.14258C>T ENSP00000354254.4:p.Pro4753Leu
NM_000540.2:c.14276C>T , LRG_766t1:c.14276C>T NP_000531.2:p.Pro4759Leu
NM_001042723.1:c.14261C>T NP_001036188.1:p.Pro4754Leu
XM_006723317.1:c.14258C>T XP_006723380.1:p.Pro4753Leu
XM_006723319.1:c.14243C>T XP_006723382.1:p.Pro4748Leu
XM_011527204.1:c.14273C>T XP_011525506.1:p.Pro4758Leu
XM_011527205.1:c.14189C>T XP_011525507.1:p.Pro4730Leu
XM_006723317.2:c.14258C>T XP_006723380.1:p.Pro4753Leu
XM_006723319.2:c.14243C>T XP_006723382.1:p.Pro4748Leu
XM_011527205.2:c.14189C>T XP_011525507.1:p.Pro4730Leu
NM_000540.3:c.14276C>T MANE Select NP_000531.2:p.Pro4759Leu
NM_001042723.2:c.14261C>T NP_001036188.1:p.Pro4754Leu
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