Canonical Allele Identifier: CA308114761
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs542186440
gnomAD v3: 19-38573281-G-A
gnomAD v4: 19-38573281-G-A
MyVariant Identifiers: chr19:g.39063921G>A (hg19) chr19:g.38573281G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573281G>A , CM000681.2:g.38573281G>A GRCh38
NC_000019.9:g.39063921G>A , CM000681.1:g.39063921G>A GRCh37
NC_000019.8:g.43755761G>A NCBI36
NG_008866.1:g.144582G>A , LRG_766:g.144582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1039G>A
ENST00000688602.1:c.2436G>A
ENST00000689936.1:c.2408G>A
ENST00000359596.8:c.14103G>A MANE Select ENSP00000352608.2:p.Gln4701=
ENST00000355481.8:c.14088G>A ENSP00000347667.3:p.Gln4696=
ENST00000359596.7:c.14103G>A ENSP00000352608.2:p.Gln4701=
ENST00000360985.7:c.14085G>A ENSP00000354254.4:p.Gln4695=
NM_000540.2:c.14103G>A , LRG_766t1:c.14103G>A NP_000531.2:p.Gln4701=
NM_001042723.1:c.14088G>A NP_001036188.1:p.Gln4696=
XM_006723317.1:c.14085G>A XP_006723380.1:p.Gln4695=
XM_006723319.1:c.14070G>A XP_006723382.1:p.Gln4690=
XM_011527204.1:c.14100G>A XP_011525506.1:p.Gln4700=
XM_011527205.1:c.14016G>A XP_011525507.1:p.Gln4672=
XM_006723317.2:c.14085G>A XP_006723380.1:p.Gln4695=
XM_006723319.2:c.14070G>A XP_006723382.1:p.Gln4690=
XM_011527205.2:c.14016G>A XP_011525507.1:p.Gln4672=
NM_000540.3:c.14103G>A MANE Select NP_000531.2:p.Gln4701=
NM_001042723.2:c.14088G>A NP_001036188.1:p.Gln4696=
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