Canonical Allele Identifier: CA405682511
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1973807125
gnomAD v3: 19-38573277-G-C
gnomAD v4: 19-38573277-G-C
MyVariant Identifiers: chr19:g.39063917G>C (hg19) chr19:g.38573277G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573277G>C , CM000681.2:g.38573277G>C GRCh38
NC_000019.9:g.39063917G>C , CM000681.1:g.39063917G>C GRCh37
NC_000019.8:g.43755757G>C NCBI36
NG_008866.1:g.144578G>C , LRG_766:g.144578G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1035G>C
ENST00000688602.1:c.2432G>C
ENST00000689936.1:c.2404G>C
ENST00000359596.8:c.14099G>C MANE Select ENSP00000352608.2:p.Gly4700Ala
ENST00000355481.8:c.14084G>C ENSP00000347667.3:p.Gly4695Ala
ENST00000359596.7:c.14099G>C ENSP00000352608.2:p.Gly4700Ala
ENST00000360985.7:c.14081G>C ENSP00000354254.4:p.Gly4694Ala
NM_000540.2:c.14099G>C , LRG_766t1:c.14099G>C NP_000531.2:p.Gly4700Ala
NM_001042723.1:c.14084G>C NP_001036188.1:p.Gly4695Ala
XM_006723317.1:c.14081G>C XP_006723380.1:p.Gly4694Ala
XM_006723319.1:c.14066G>C XP_006723382.1:p.Gly4689Ala
XM_011527204.1:c.14096G>C XP_011525506.1:p.Gly4699Ala
XM_011527205.1:c.14012G>C XP_011525507.1:p.Gly4671Ala
XM_006723317.2:c.14081G>C XP_006723380.1:p.Gly4694Ala
XM_006723319.2:c.14066G>C XP_006723382.1:p.Gly4689Ala
XM_011527205.2:c.14012G>C XP_011525507.1:p.Gly4671Ala
NM_000540.3:c.14099G>C MANE Select NP_000531.2:p.Gly4700Ala
NM_001042723.2:c.14084G>C NP_001036188.1:p.Gly4695Ala
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