Canonical Allele Identifier: CA308120058
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571399
ClinVar RCV Id: RCV000692536 RCV000764200 RCV003133534 RCV003999585
dbSNP Id: rs1049117716
gnomAD v4: 19-38577918-G-C
MyVariant Identifiers: chr19:g.39068558G>C (hg19) chr19:g.38577918G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577918G>C , CM000681.2:g.38577918G>C GRCh38
NC_000019.9:g.39068558G>C , CM000681.1:g.39068558G>C GRCh37
NC_000019.8:g.43760398G>C NCBI36
NG_008866.1:g.149219G>C , LRG_766:g.149219G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1109G>C
ENST00000688602.1:c.2506G>C
ENST00000689936.1:c.2478G>C
ENST00000359596.8:c.14173G>C MANE Select ENSP00000352608.2:p.Val4725Leu
ENST00000355481.8:c.14158G>C ENSP00000347667.3:p.Val4720Leu
ENST00000359596.7:c.14173G>C ENSP00000352608.2:p.Val4725Leu
ENST00000360985.7:c.14155G>C ENSP00000354254.4:p.Val4719Leu
NM_000540.2:c.14173G>C , LRG_766t1:c.14173G>C NP_000531.2:p.Val4725Leu
NM_001042723.1:c.14158G>C NP_001036188.1:p.Val4720Leu
XM_006723317.1:c.14155G>C XP_006723380.1:p.Val4719Leu
XM_006723319.1:c.14140G>C XP_006723382.1:p.Val4714Leu
XM_011527204.1:c.14170G>C XP_011525506.1:p.Val4724Leu
XM_011527205.1:c.14086G>C XP_011525507.1:p.Val4696Leu
XM_006723317.2:c.14155G>C XP_006723380.1:p.Val4719Leu
XM_006723319.2:c.14140G>C XP_006723382.1:p.Val4714Leu
XM_011527205.2:c.14086G>C XP_011525507.1:p.Val4696Leu
NM_000540.3:c.14173G>C MANE Select NP_000531.2:p.Val4725Leu
NM_001042723.2:c.14158G>C NP_001036188.1:p.Val4720Leu
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