Canonical Allele Identifier: CA405685221
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999164
ClinVar RCV Id: RCV001295124
dbSNP Id: rs1974044905
MyVariant Identifiers: chr19:g.39068815T>C (hg19) chr19:g.38578175T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578175T>C , CM000681.2:g.38578175T>C GRCh38
NC_000019.9:g.39068815T>C , CM000681.1:g.39068815T>C GRCh37
NC_000019.8:g.43760655T>C NCBI36
NG_008866.1:g.149476T>C , LRG_766:g.149476T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1271T>C
ENST00000688602.1:c.2668T>C
ENST00000689936.1:c.2640T>C
ENST00000359596.8:c.14335T>C MANE Select ENSP00000352608.2:p.Trp4779Arg
ENST00000355481.8:c.14320T>C ENSP00000347667.3:p.Trp4774Arg
ENST00000359596.7:c.14335T>C ENSP00000352608.2:p.Trp4779Arg
ENST00000360985.7:c.14317T>C ENSP00000354254.4:p.Trp4773Arg
NM_000540.2:c.14335T>C , LRG_766t1:c.14335T>C NP_000531.2:p.Trp4779Arg
NM_001042723.1:c.14320T>C NP_001036188.1:p.Trp4774Arg
XM_006723317.1:c.14317T>C XP_006723380.1:p.Trp4773Arg
XM_006723319.1:c.14302T>C XP_006723382.1:p.Trp4768Arg
XM_011527204.1:c.14332T>C XP_011525506.1:p.Trp4778Arg
XM_011527205.1:c.14248T>C XP_011525507.1:p.Trp4750Arg
XM_006723317.2:c.14317T>C XP_006723380.1:p.Trp4773Arg
XM_006723319.2:c.14302T>C XP_006723382.1:p.Trp4768Arg
XM_011527205.2:c.14248T>C XP_011525507.1:p.Trp4750Arg
NM_000540.3:c.14335T>C MANE Select NP_000531.2:p.Trp4779Arg
NM_001042723.2:c.14320T>C NP_001036188.1:p.Trp4774Arg
Search 100 bp 5'
Search 100 bp 3'