Canonical Allele Identifier: CA405684699
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2159243
ClinVar RCV Id: RCV003072713 RCV003138500
dbSNP Id: rs1403351558
gnomAD v2: 19-39068649-A-G
gnomAD v3: 19-38578009-A-G
gnomAD v4: 19-38578009-A-G
MyVariant Identifiers: chr19:g.39068649A>G (hg19) chr19:g.38578009A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578009A>G , CM000681.2:g.38578009A>G GRCh38
NC_000019.9:g.39068649A>G , CM000681.1:g.39068649A>G GRCh37
NC_000019.8:g.43760489A>G NCBI36
NG_008866.1:g.149310A>G , LRG_766:g.149310A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1200A>G
ENST00000688602.1:c.2597A>G
ENST00000689936.1:c.2569A>G
ENST00000359596.8:c.14264A>G MANE Select ENSP00000352608.2:p.Asn4755Ser
ENST00000355481.8:c.14249A>G ENSP00000347667.3:p.Asn4750Ser
ENST00000359596.7:c.14264A>G ENSP00000352608.2:p.Asn4755Ser
ENST00000360985.7:c.14246A>G ENSP00000354254.4:p.Asn4749Ser
NM_000540.2:c.14264A>G , LRG_766t1:c.14264A>G NP_000531.2:p.Asn4755Ser
NM_001042723.1:c.14249A>G NP_001036188.1:p.Asn4750Ser
XM_006723317.1:c.14246A>G XP_006723380.1:p.Asn4749Ser
XM_006723319.1:c.14231A>G XP_006723382.1:p.Asn4744Ser
XM_011527204.1:c.14261A>G XP_011525506.1:p.Asn4754Ser
XM_011527205.1:c.14177A>G XP_011525507.1:p.Asn4726Ser
XM_006723317.2:c.14246A>G XP_006723380.1:p.Asn4749Ser
XM_006723319.2:c.14231A>G XP_006723382.1:p.Asn4744Ser
XM_011527205.2:c.14177A>G XP_011525507.1:p.Asn4726Ser
NM_000540.3:c.14264A>G MANE Select NP_000531.2:p.Asn4755Ser
NM_001042723.2:c.14249A>G NP_001036188.1:p.Asn4750Ser
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