Canonical Allele Identifier: CA405685374
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435508
ClinVar RCV Id: RCV003130433
gnomAD v4: 19-38578193-T-C
MyVariant Identifiers: chr19:g.39068833T>C (hg19) chr19:g.38578193T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1289T>C
ENST00000688602.1:c.2686T>C
ENST00000689936.1:c.2658T>C
ENST00000359596.8:c.14353T>C MANE Select ENSP00000352608.2:p.Phe4785Leu
ENST00000355481.8:c.14338T>C ENSP00000347667.3:p.Phe4780Leu
ENST00000359596.7:c.14353T>C ENSP00000352608.2:p.Phe4785Leu
ENST00000360985.7:c.14335T>C ENSP00000354254.4:p.Phe4779Leu
NM_000540.2:c.14353T>C , LRG_766t1:c.14353T>C NP_000531.2:p.Phe4785Leu
NM_001042723.1:c.14338T>C NP_001036188.1:p.Phe4780Leu
XM_006723317.1:c.14335T>C XP_006723380.1:p.Phe4779Leu
XM_006723319.1:c.14320T>C XP_006723382.1:p.Phe4774Leu
XM_011527204.1:c.14350T>C XP_011525506.1:p.Phe4784Leu
XM_011527205.1:c.14266T>C XP_011525507.1:p.Phe4756Leu
XM_006723317.2:c.14335T>C XP_006723380.1:p.Phe4779Leu
XM_006723319.2:c.14320T>C XP_006723382.1:p.Phe4774Leu
XM_011527205.2:c.14266T>C XP_011525507.1:p.Phe4756Leu
NM_000540.3:c.14353T>C MANE Select NP_000531.2:p.Phe4785Leu
NM_001042723.2:c.14338T>C NP_001036188.1:p.Phe4780Leu
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