Canonical Allele Identifier: CA507245860
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2912628
ClinVar RCV Id: RCV003757072
gnomAD v4: 19-38577969-C-T
MyVariant Identifiers: chr19:g.39068609C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577969C>T , CM000681.2:g.38577969C>T GRCh38
NC_000019.9:g.39068609C>T , CM000681.1:g.39068609C>T GRCh37
NC_000019.8:g.43760449C>T NCBI36
NG_008866.1:g.149270C>T , LRG_766:g.149270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1160C>T
ENST00000688602.1:c.2557C>T
ENST00000689936.1:c.2529C>T
ENST00000359596.8:c.14224C>T MANE Select ENSP00000352608.2:p.Leu4742=
ENST00000355481.8:c.14209C>T ENSP00000347667.3:p.Leu4737=
ENST00000359596.7:c.14224C>T ENSP00000352608.2:p.Leu4742=
ENST00000360985.7:c.14206C>T ENSP00000354254.4:p.Leu4736=
NM_000540.2:c.14224C>T , LRG_766t1:c.14224C>T NP_000531.2:p.Leu4742=
NM_001042723.1:c.14209C>T NP_001036188.1:p.Leu4737=
XM_006723317.1:c.14206C>T XP_006723380.1:p.Leu4736=
XM_006723319.1:c.14191C>T XP_006723382.1:p.Leu4731=
XM_011527204.1:c.14221C>T XP_011525506.1:p.Leu4741=
XM_011527205.1:c.14137C>T XP_011525507.1:p.Leu4713=
XM_006723317.2:c.14206C>T XP_006723380.1:p.Leu4736=
XM_006723319.2:c.14191C>T XP_006723382.1:p.Leu4731=
XM_011527205.2:c.14137C>T XP_011525507.1:p.Leu4713=
NM_000540.3:c.14224C>T MANE Select NP_000531.2:p.Leu4742=
NM_001042723.2:c.14209C>T NP_001036188.1:p.Leu4737=
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