Canonical Allele Identifier: CA405691608
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2173572
ClinVar RCV Id: RCV002581977 RCV004009440
dbSNP Id: rs200770015
gnomAD v4: 19-38455713-A-C
MyVariant Identifiers: chr19:g.38946353A>C (hg19) chr19:g.38455713A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455713A>C , CM000681.2:g.38455713A>C GRCh38
NC_000019.9:g.38946353A>C , CM000681.1:g.38946353A>C GRCh37
NC_000019.8:g.43638193A>C NCBI36
NG_008866.1:g.27014A>C , LRG_766:g.27014A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1753A>C ENSP00000471601.2:p.Ile585Leu
ENST00000359596.8:c.1753A>C MANE Select ENSP00000352608.2:p.Ile585Leu
ENST00000355481.8:c.1753A>C ENSP00000347667.3:p.Ile585Leu
ENST00000359596.7:c.1753A>C ENSP00000352608.2:p.Ile585Leu
ENST00000360985.7:c.1753A>C ENSP00000354254.4:p.Ile585Leu
NM_000540.2:c.1753A>C , LRG_766t1:c.1753A>C NP_000531.2:p.Ile585Leu
NM_001042723.1:c.1753A>C NP_001036188.1:p.Ile585Leu
XM_006723317.1:c.1753A>C XP_006723380.1:p.Ile585Leu
XM_006723319.1:c.1753A>C XP_006723382.1:p.Ile585Leu
XM_011527204.1:c.1750A>C XP_011525506.1:p.Ile584Leu
XM_011527205.1:c.1753A>C XP_011525507.1:p.Ile585Leu
XM_006723317.2:c.1753A>C XP_006723380.1:p.Ile585Leu
XM_006723319.2:c.1753A>C XP_006723382.1:p.Ile585Leu
XM_011527205.2:c.1753A>C XP_011525507.1:p.Ile585Leu
XR_001753735.1:n.1836A>C
NM_000540.3:c.1753A>C MANE Select NP_000531.2:p.Ile585Leu
NM_001042723.2:c.1753A>C NP_001036188.1:p.Ile585Leu
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