Canonical Allele Identifier: CA405684737
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1599660251
MyVariant Identifiers: chr19:g.39068657A>C (hg19) chr19:g.38578017A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578017A>C , CM000681.2:g.38578017A>C GRCh38
NC_000019.9:g.39068657A>C , CM000681.1:g.39068657A>C GRCh37
NC_000019.8:g.43760497A>C NCBI36
NG_008866.1:g.149318A>C , LRG_766:g.149318A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1208A>C
ENST00000688602.1:c.2605A>C
ENST00000689936.1:c.2577A>C
ENST00000359596.8:c.14272A>C MANE Select ENSP00000352608.2:p.Lys4758Gln
ENST00000355481.8:c.14257A>C ENSP00000347667.3:p.Lys4753Gln
ENST00000359596.7:c.14272A>C ENSP00000352608.2:p.Lys4758Gln
ENST00000360985.7:c.14254A>C ENSP00000354254.4:p.Lys4752Gln
NM_000540.2:c.14272A>C , LRG_766t1:c.14272A>C NP_000531.2:p.Lys4758Gln
NM_001042723.1:c.14257A>C NP_001036188.1:p.Lys4753Gln
XM_006723317.1:c.14254A>C XP_006723380.1:p.Lys4752Gln
XM_006723319.1:c.14239A>C XP_006723382.1:p.Lys4747Gln
XM_011527204.1:c.14269A>C XP_011525506.1:p.Lys4757Gln
XM_011527205.1:c.14185A>C XP_011525507.1:p.Lys4729Gln
XM_006723317.2:c.14254A>C XP_006723380.1:p.Lys4752Gln
XM_006723319.2:c.14239A>C XP_006723382.1:p.Lys4747Gln
XM_011527205.2:c.14185A>C XP_011525507.1:p.Lys4729Gln
NM_000540.3:c.14272A>C MANE Select NP_000531.2:p.Lys4758Gln
NM_001042723.2:c.14257A>C NP_001036188.1:p.Lys4753Gln
Search 100 bp 5'
Search 100 bp 3'