Canonical Allele Identifier: CA060986
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1357884
ClinVar RCV Id: RCV001878486 RCV002264403 RCV003514535
dbSNP Id: rs754190031
ExAC: 19:39068589 G / A
gnomAD v2: 19-39068589-G-A
gnomAD v3: 19-38577949-G-A
gnomAD v4: 19-38577949-G-A
MyVariant Identifiers: chr19:g.39068589G>A (hg19) chr19:g.38577949G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577949G>A , CM000681.2:g.38577949G>A GRCh38
NC_000019.9:g.39068589G>A , CM000681.1:g.39068589G>A GRCh37
NC_000019.8:g.43760429G>A NCBI36
NG_008866.1:g.149250G>A , LRG_766:g.149250G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1140G>A
ENST00000688602.1:c.2537G>A
ENST00000689936.1:c.2509G>A
ENST00000359596.8:c.14204G>A MANE Select ENSP00000352608.2:p.Arg4735Gln
ENST00000355481.8:c.14189G>A ENSP00000347667.3:p.Arg4730Gln
ENST00000359596.7:c.14204G>A ENSP00000352608.2:p.Arg4735Gln
ENST00000360985.7:c.14186G>A ENSP00000354254.4:p.Arg4729Gln
NM_000540.2:c.14204G>A , LRG_766t1:c.14204G>A NP_000531.2:p.Arg4735Gln
NM_001042723.1:c.14189G>A NP_001036188.1:p.Arg4730Gln
XM_006723317.1:c.14186G>A XP_006723380.1:p.Arg4729Gln
XM_006723319.1:c.14171G>A XP_006723382.1:p.Arg4724Gln
XM_011527204.1:c.14201G>A XP_011525506.1:p.Arg4734Gln
XM_011527205.1:c.14117G>A XP_011525507.1:p.Arg4706Gln
XM_006723317.2:c.14186G>A XP_006723380.1:p.Arg4729Gln
XM_006723319.2:c.14171G>A XP_006723382.1:p.Arg4724Gln
XM_011527205.2:c.14117G>A XP_011525507.1:p.Arg4706Gln
NM_000540.3:c.14204G>A MANE Select NP_000531.2:p.Arg4735Gln
NM_001042723.2:c.14189G>A NP_001036188.1:p.Arg4730Gln
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