Canonical Allele Identifier: CA308120103
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs906586604
gnomAD v4: 19-38577975-A-G
MyVariant Identifiers: chr19:g.39068615A>G (hg19) chr19:g.38577975A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577975A>G , CM000681.2:g.38577975A>G GRCh38
NC_000019.9:g.39068615A>G , CM000681.1:g.39068615A>G GRCh37
NC_000019.8:g.43760455A>G NCBI36
NG_008866.1:g.149276A>G , LRG_766:g.149276A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1166A>G
ENST00000688602.1:c.2563A>G
ENST00000689936.1:c.2535A>G
ENST00000359596.8:c.14230A>G MANE Select ENSP00000352608.2:p.Met4744Val
ENST00000355481.8:c.14215A>G ENSP00000347667.3:p.Met4739Val
ENST00000359596.7:c.14230A>G ENSP00000352608.2:p.Met4744Val
ENST00000360985.7:c.14212A>G ENSP00000354254.4:p.Met4738Val
NM_000540.2:c.14230A>G , LRG_766t1:c.14230A>G NP_000531.2:p.Met4744Val
NM_001042723.1:c.14215A>G NP_001036188.1:p.Met4739Val
XM_006723317.1:c.14212A>G XP_006723380.1:p.Met4738Val
XM_006723319.1:c.14197A>G XP_006723382.1:p.Met4733Val
XM_011527204.1:c.14227A>G XP_011525506.1:p.Met4743Val
XM_011527205.1:c.14143A>G XP_011525507.1:p.Met4715Val
XM_006723317.2:c.14212A>G XP_006723380.1:p.Met4738Val
XM_006723319.2:c.14197A>G XP_006723382.1:p.Met4733Val
XM_011527205.2:c.14143A>G XP_011525507.1:p.Met4715Val
NM_000540.3:c.14230A>G MANE Select NP_000531.2:p.Met4744Val
NM_001042723.2:c.14215A>G NP_001036188.1:p.Met4739Val
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