Canonical Allele Identifier: CA405682416
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38573256-C-G
MyVariant Identifiers: chr19:g.39063896C>G (hg19) chr19:g.38573256C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573256C>G , CM000681.2:g.38573256C>G GRCh38
NC_000019.9:g.39063896C>G , CM000681.1:g.39063896C>G GRCh37
NC_000019.8:g.43755736C>G NCBI36
NG_008866.1:g.144557C>G , LRG_766:g.144557C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1014C>G
ENST00000688602.1:c.2411C>G
ENST00000689936.1:c.2383C>G
ENST00000359596.8:c.14078C>G MANE Select ENSP00000352608.2:p.Pro4693Arg
ENST00000355481.8:c.14063C>G ENSP00000347667.3:p.Pro4688Arg
ENST00000359596.7:c.14078C>G ENSP00000352608.2:p.Pro4693Arg
ENST00000360985.7:c.14060C>G ENSP00000354254.4:p.Pro4687Arg
NM_000540.2:c.14078C>G , LRG_766t1:c.14078C>G NP_000531.2:p.Pro4693Arg
NM_001042723.1:c.14063C>G NP_001036188.1:p.Pro4688Arg
XM_006723317.1:c.14060C>G XP_006723380.1:p.Pro4687Arg
XM_006723319.1:c.14045C>G XP_006723382.1:p.Pro4682Arg
XM_011527204.1:c.14075C>G XP_011525506.1:p.Pro4692Arg
XM_011527205.1:c.13991C>G XP_011525507.1:p.Pro4664Arg
XM_006723317.2:c.14060C>G XP_006723380.1:p.Pro4687Arg
XM_006723319.2:c.14045C>G XP_006723382.1:p.Pro4682Arg
XM_011527205.2:c.13991C>G XP_011525507.1:p.Pro4664Arg
NM_000540.3:c.14078C>G MANE Select NP_000531.2:p.Pro4693Arg
NM_001042723.2:c.14063C>G NP_001036188.1:p.Pro4688Arg
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