Canonical Allele Identifier: CA405684495
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1364626230
gnomAD v2: 19-39068616-T-C
gnomAD v3: 19-38577976-T-C
gnomAD v4: 19-38577976-T-C
MyVariant Identifiers: chr19:g.39068616T>C (hg19) chr19:g.38577976T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577976T>C , CM000681.2:g.38577976T>C GRCh38
NC_000019.9:g.39068616T>C , CM000681.1:g.39068616T>C GRCh37
NC_000019.8:g.43760456T>C NCBI36
NG_008866.1:g.149277T>C , LRG_766:g.149277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1167T>C
ENST00000688602.1:c.2564T>C
ENST00000689936.1:c.2536T>C
ENST00000359596.8:c.14231T>C MANE Select ENSP00000352608.2:p.Met4744Thr
ENST00000355481.8:c.14216T>C ENSP00000347667.3:p.Met4739Thr
ENST00000359596.7:c.14231T>C ENSP00000352608.2:p.Met4744Thr
ENST00000360985.7:c.14213T>C ENSP00000354254.4:p.Met4738Thr
NM_000540.2:c.14231T>C , LRG_766t1:c.14231T>C NP_000531.2:p.Met4744Thr
NM_001042723.1:c.14216T>C NP_001036188.1:p.Met4739Thr
XM_006723317.1:c.14213T>C XP_006723380.1:p.Met4738Thr
XM_006723319.1:c.14198T>C XP_006723382.1:p.Met4733Thr
XM_011527204.1:c.14228T>C XP_011525506.1:p.Met4743Thr
XM_011527205.1:c.14144T>C XP_011525507.1:p.Met4715Thr
XM_006723317.2:c.14213T>C XP_006723380.1:p.Met4738Thr
XM_006723319.2:c.14198T>C XP_006723382.1:p.Met4733Thr
XM_011527205.2:c.14144T>C XP_011525507.1:p.Met4715Thr
NM_000540.3:c.14231T>C MANE Select NP_000531.2:p.Met4744Thr
NM_001042723.2:c.14216T>C NP_001036188.1:p.Met4739Thr
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