Canonical Allele Identifier: CA060828
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 511746
ClinVar RCV Id: RCV000612819 RCV003757194
dbSNP Id: rs368032372
ExAC: 19:39063960 C / T
gnomAD v2: 19-39063960-C-T
gnomAD v4: 19-38573320-C-T
MyVariant Identifiers: chr19:g.39063960C>T (hg19) chr19:g.38573320C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573320C>T , CM000681.2:g.38573320C>T GRCh38
NC_000019.9:g.39063960C>T , CM000681.1:g.39063960C>T GRCh37
NC_000019.8:g.43755800C>T NCBI36
NG_008866.1:g.144621C>T , LRG_766:g.144621C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1065+13C>T
ENST00000688602.1:c.2462+13C>T
ENST00000689936.1:c.2434+13C>T
ENST00000359596.8:c.14129+13C>T MANE Select ENSP00000352608.2:n.14129+13C>T
ENST00000355481.8:c.14114+13C>T ENSP00000347667.3:n.14114+13C>T
ENST00000359596.7:c.14129+13C>T ENSP00000352608.2:n.14129+13C>T
ENST00000360985.7:c.14111+13C>T ENSP00000354254.4:n.14111+13C>T
NM_000540.2:c.14129+13C>T , LRG_766t1:c.14129+13C>T NP_000531.2:n.14129+13C>T
NM_001042723.1:c.14114+13C>T NP_001036188.1:n.14114+13C>T
XM_006723317.1:c.14111+13C>T XP_006723380.1:n.14111+13C>T
XM_006723319.1:c.14096+13C>T XP_006723382.1:n.14096+13C>T
XM_011527204.1:c.14126+13C>T XP_011525506.1:n.14126+13C>T
XM_011527205.1:c.14042+13C>T XP_011525507.1:n.14042+13C>T
XM_006723317.2:c.14111+13C>T XP_006723380.1:n.14111+13C>T
XM_006723319.2:c.14096+13C>T XP_006723382.1:n.14096+13C>T
XM_011527205.2:c.14042+13C>T XP_011525507.1:n.14042+13C>T
NM_000540.3:c.14129+13C>T MANE Select NP_000531.2:n.14129+13C>T
NM_001042723.2:c.14114+13C>T NP_001036188.1:n.14114+13C>T
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