Canonical Allele Identifier: CA061117
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs771741598
ExAC: 19:39068811 G / C
gnomAD v2: 19-39068811-G-C
MyVariant Identifiers: chr19:g.39068811G>C (hg19) chr19:g.38578171G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578171G>C , CM000681.2:g.38578171G>C GRCh38
NC_000019.9:g.39068811G>C , CM000681.1:g.39068811G>C GRCh37
NC_000019.8:g.43760651G>C NCBI36
NG_008866.1:g.149472G>C , LRG_766:g.149472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1267G>C
ENST00000688602.1:c.2664G>C
ENST00000689936.1:c.2636G>C
ENST00000359596.8:c.14331G>C MANE Select ENSP00000352608.2:p.Gln4777His
ENST00000355481.8:c.14316G>C ENSP00000347667.3:p.Gln4772His
ENST00000359596.7:c.14331G>C ENSP00000352608.2:p.Gln4777His
ENST00000360985.7:c.14313G>C ENSP00000354254.4:p.Gln4771His
NM_000540.2:c.14331G>C , LRG_766t1:c.14331G>C NP_000531.2:p.Gln4777His
NM_001042723.1:c.14316G>C NP_001036188.1:p.Gln4772His
XM_006723317.1:c.14313G>C XP_006723380.1:p.Gln4771His
XM_006723319.1:c.14298G>C XP_006723382.1:p.Gln4766His
XM_011527204.1:c.14328G>C XP_011525506.1:p.Gln4776His
XM_011527205.1:c.14244G>C XP_011525507.1:p.Gln4748His
XM_006723317.2:c.14313G>C XP_006723380.1:p.Gln4771His
XM_006723319.2:c.14298G>C XP_006723382.1:p.Gln4766His
XM_011527205.2:c.14244G>C XP_011525507.1:p.Gln4748His
NM_000540.3:c.14331G>C MANE Select NP_000531.2:p.Gln4777His
NM_001042723.2:c.14316G>C NP_001036188.1:p.Gln4772His
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