Canonical Allele Identifier: CA405688929
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 650266
ClinVar RCV Id: RCV000805382
dbSNP Id: rs1600674736
MyVariant Identifiers: chr19:g.38945941G>T (hg19) chr19:g.38455301G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455301G>T , CM000681.2:g.38455301G>T GRCh38
NC_000019.9:g.38945941G>T , CM000681.1:g.38945941G>T GRCh37
NC_000019.8:g.43637781G>T NCBI36
NG_008866.1:g.26602G>T , LRG_766:g.26602G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1507G>T ENSP00000471601.2:p.Ala503Ser
ENST00000359596.8:c.1507G>T MANE Select ENSP00000352608.2:p.Ala503Ser
ENST00000355481.8:c.1507G>T ENSP00000347667.3:p.Ala503Ser
ENST00000359596.7:c.1507G>T ENSP00000352608.2:p.Ala503Ser
ENST00000360985.7:c.1507G>T ENSP00000354254.4:p.Ala503Ser
NM_000540.2:c.1507G>T , LRG_766t1:c.1507G>T NP_000531.2:p.Ala503Ser
NM_001042723.1:c.1507G>T NP_001036188.1:p.Ala503Ser
XM_006723317.1:c.1507G>T XP_006723380.1:p.Ala503Ser
XM_006723319.1:c.1507G>T XP_006723382.1:p.Ala503Ser
XM_011527204.1:c.1504G>T XP_011525506.1:p.Ala502Ser
XM_011527205.1:c.1507G>T XP_011525507.1:p.Ala503Ser
XM_006723317.2:c.1507G>T XP_006723380.1:p.Ala503Ser
XM_006723319.2:c.1507G>T XP_006723382.1:p.Ala503Ser
XM_011527205.2:c.1507G>T XP_011525507.1:p.Ala503Ser
XR_001753735.1:n.1590G>T
NM_000540.3:c.1507G>T MANE Select NP_000531.2:p.Ala503Ser
NM_001042723.2:c.1507G>T NP_001036188.1:p.Ala503Ser
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