Canonical Allele Identifier: CA405685376
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1599660737
MyVariant Identifiers: chr19:g.39068833T>G (hg19) chr19:g.38578193T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578193T>G , CM000681.2:g.38578193T>G GRCh38
NC_000019.9:g.39068833T>G , CM000681.1:g.39068833T>G GRCh37
NC_000019.8:g.43760673T>G NCBI36
NG_008866.1:g.149494T>G , LRG_766:g.149494T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1289T>G
ENST00000688602.1:c.2686T>G
ENST00000689936.1:c.2658T>G
ENST00000359596.8:c.14353T>G MANE Select ENSP00000352608.2:p.Phe4785Val
ENST00000355481.8:c.14338T>G ENSP00000347667.3:p.Phe4780Val
ENST00000359596.7:c.14353T>G ENSP00000352608.2:p.Phe4785Val
ENST00000360985.7:c.14335T>G ENSP00000354254.4:p.Phe4779Val
NM_000540.2:c.14353T>G , LRG_766t1:c.14353T>G NP_000531.2:p.Phe4785Val
NM_001042723.1:c.14338T>G NP_001036188.1:p.Phe4780Val
XM_006723317.1:c.14335T>G XP_006723380.1:p.Phe4779Val
XM_006723319.1:c.14320T>G XP_006723382.1:p.Phe4774Val
XM_011527204.1:c.14350T>G XP_011525506.1:p.Phe4784Val
XM_011527205.1:c.14266T>G XP_011525507.1:p.Phe4756Val
XM_006723317.2:c.14335T>G XP_006723380.1:p.Phe4779Val
XM_006723319.2:c.14320T>G XP_006723382.1:p.Phe4774Val
XM_011527205.2:c.14266T>G XP_011525507.1:p.Phe4756Val
NM_000540.3:c.14353T>G MANE Select NP_000531.2:p.Phe4785Val
NM_001042723.2:c.14338T>G NP_001036188.1:p.Phe4780Val
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