Canonical Allele Identifier: CA405682078
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063854C>G (hg19) chr19:g.38573214C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573214C>G , CM000681.2:g.38573214C>G GRCh38
NC_000019.9:g.39063854C>G , CM000681.1:g.39063854C>G GRCh37
NC_000019.8:g.43755694C>G NCBI36
NG_008866.1:g.144515C>G , LRG_766:g.144515C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.972C>G
ENST00000688602.1:c.2369C>G
ENST00000689936.1:c.2341C>G
ENST00000359596.8:c.14036C>G MANE Select ENSP00000352608.2:p.Ala4679Gly
ENST00000355481.8:c.14021C>G ENSP00000347667.3:p.Ala4674Gly
ENST00000359596.7:c.14036C>G ENSP00000352608.2:p.Ala4679Gly
ENST00000360985.7:c.14018C>G ENSP00000354254.4:p.Ala4673Gly
NM_000540.2:c.14036C>G , LRG_766t1:c.14036C>G NP_000531.2:p.Ala4679Gly
NM_001042723.1:c.14021C>G NP_001036188.1:p.Ala4674Gly
XM_006723317.1:c.14018C>G XP_006723380.1:p.Ala4673Gly
XM_006723319.1:c.14003C>G XP_006723382.1:p.Ala4668Gly
XM_011527204.1:c.14033C>G XP_011525506.1:p.Ala4678Gly
XM_011527205.1:c.13949C>G XP_011525507.1:p.Ala4650Gly
XM_006723317.2:c.14018C>G XP_006723380.1:p.Ala4673Gly
XM_006723319.2:c.14003C>G XP_006723382.1:p.Ala4668Gly
XM_011527205.2:c.13949C>G XP_011525507.1:p.Ala4650Gly
NM_000540.3:c.14036C>G MANE Select NP_000531.2:p.Ala4679Gly
NM_001042723.2:c.14021C>G NP_001036188.1:p.Ala4674Gly
Search 100 bp 5'
Search 100 bp 3'