Canonical Allele Identifier: CA405684768
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs980411516
gnomAD v4: 19-38578024-A-C
MyVariant Identifiers: chr19:g.39068664A>C (hg19) chr19:g.38578024A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578024A>C , CM000681.2:g.38578024A>C GRCh38
NC_000019.9:g.39068664A>C , CM000681.1:g.39068664A>C GRCh37
NC_000019.8:g.43760504A>C NCBI36
NG_008866.1:g.149325A>C , LRG_766:g.149325A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1215A>C
ENST00000688602.1:c.2612A>C
ENST00000689936.1:c.2584A>C
ENST00000359596.8:c.14279A>C MANE Select ENSP00000352608.2:p.Asn4760Thr
ENST00000355481.8:c.14264A>C ENSP00000347667.3:p.Asn4755Thr
ENST00000359596.7:c.14279A>C ENSP00000352608.2:p.Asn4760Thr
ENST00000360985.7:c.14261A>C ENSP00000354254.4:p.Asn4754Thr
NM_000540.2:c.14279A>C , LRG_766t1:c.14279A>C NP_000531.2:p.Asn4760Thr
NM_001042723.1:c.14264A>C NP_001036188.1:p.Asn4755Thr
XM_006723317.1:c.14261A>C XP_006723380.1:p.Asn4754Thr
XM_006723319.1:c.14246A>C XP_006723382.1:p.Asn4749Thr
XM_011527204.1:c.14276A>C XP_011525506.1:p.Asn4759Thr
XM_011527205.1:c.14192A>C XP_011525507.1:p.Asn4731Thr
XM_006723317.2:c.14261A>C XP_006723380.1:p.Asn4754Thr
XM_006723319.2:c.14246A>C XP_006723382.1:p.Asn4749Thr
XM_011527205.2:c.14192A>C XP_011525507.1:p.Asn4731Thr
NM_000540.3:c.14279A>C MANE Select NP_000531.2:p.Asn4760Thr
NM_001042723.2:c.14264A>C NP_001036188.1:p.Asn4755Thr
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