Canonical Allele Identifier: CA405685354
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001848
ClinVar RCV Id: RCV001298195
dbSNP Id: rs1974045575
MyVariant Identifiers: chr19:g.39068830A>C (hg19) chr19:g.38578190A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578190A>C , CM000681.2:g.38578190A>C GRCh38
NC_000019.9:g.39068830A>C , CM000681.1:g.39068830A>C GRCh37
NC_000019.8:g.43760670A>C NCBI36
NG_008866.1:g.149491A>C , LRG_766:g.149491A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1286A>C
ENST00000688602.1:c.2683A>C
ENST00000689936.1:c.2655A>C
ENST00000359596.8:c.14350A>C MANE Select ENSP00000352608.2:p.Ile4784Leu
ENST00000355481.8:c.14335A>C ENSP00000347667.3:p.Ile4779Leu
ENST00000359596.7:c.14350A>C ENSP00000352608.2:p.Ile4784Leu
ENST00000360985.7:c.14332A>C ENSP00000354254.4:p.Ile4778Leu
NM_000540.2:c.14350A>C , LRG_766t1:c.14350A>C NP_000531.2:p.Ile4784Leu
NM_001042723.1:c.14335A>C NP_001036188.1:p.Ile4779Leu
XM_006723317.1:c.14332A>C XP_006723380.1:p.Ile4778Leu
XM_006723319.1:c.14317A>C XP_006723382.1:p.Ile4773Leu
XM_011527204.1:c.14347A>C XP_011525506.1:p.Ile4783Leu
XM_011527205.1:c.14263A>C XP_011525507.1:p.Ile4755Leu
XM_006723317.2:c.14332A>C XP_006723380.1:p.Ile4778Leu
XM_006723319.2:c.14317A>C XP_006723382.1:p.Ile4773Leu
XM_011527205.2:c.14263A>C XP_011525507.1:p.Ile4755Leu
NM_000540.3:c.14350A>C MANE Select NP_000531.2:p.Ile4784Leu
NM_001042723.2:c.14335A>C NP_001036188.1:p.Ile4779Leu
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