Canonical Allele Identifier: CA405684663
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068642G>C (hg19) chr19:g.38578002G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578002G>C , CM000681.2:g.38578002G>C GRCh38
NC_000019.9:g.39068642G>C , CM000681.1:g.39068642G>C GRCh37
NC_000019.8:g.43760482G>C NCBI36
NG_008866.1:g.149303G>C , LRG_766:g.149303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1193G>C
ENST00000688602.1:c.2590G>C
ENST00000689936.1:c.2562G>C
ENST00000359596.8:c.14257G>C MANE Select ENSP00000352608.2:p.Ala4753Pro
ENST00000355481.8:c.14242G>C ENSP00000347667.3:p.Ala4748Pro
ENST00000359596.7:c.14257G>C ENSP00000352608.2:p.Ala4753Pro
ENST00000360985.7:c.14239G>C ENSP00000354254.4:p.Ala4747Pro
NM_000540.2:c.14257G>C , LRG_766t1:c.14257G>C NP_000531.2:p.Ala4753Pro
NM_001042723.1:c.14242G>C NP_001036188.1:p.Ala4748Pro
XM_006723317.1:c.14239G>C XP_006723380.1:p.Ala4747Pro
XM_006723319.1:c.14224G>C XP_006723382.1:p.Ala4742Pro
XM_011527204.1:c.14254G>C XP_011525506.1:p.Ala4752Pro
XM_011527205.1:c.14170G>C XP_011525507.1:p.Ala4724Pro
XM_006723317.2:c.14239G>C XP_006723380.1:p.Ala4747Pro
XM_006723319.2:c.14224G>C XP_006723382.1:p.Ala4742Pro
XM_011527205.2:c.14170G>C XP_011525507.1:p.Ala4724Pro
NM_000540.3:c.14257G>C MANE Select NP_000531.2:p.Ala4753Pro
NM_001042723.2:c.14242G>C NP_001036188.1:p.Ala4748Pro
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