Canonical Allele Identifier: CA082391
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38499960-A-G
MyVariant Identifiers: chr19:g.38990600A>G (hg19) chr19:g.38499960A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499960A>G , CM000681.2:g.38499960A>G GRCh38
NC_000019.9:g.38990600A>G , CM000681.1:g.38990600A>G GRCh37
NC_000019.8:g.43682440A>G NCBI36
NG_008866.1:g.71261A>G , LRG_766:g.71261A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7267A>G ENSP00000471601.2:p.Met2423Val
ENST00000359596.8:c.7267A>G MANE Select ENSP00000352608.2:p.Met2423Val
ENST00000355481.8:c.7267A>G ENSP00000347667.3:p.Met2423Val
ENST00000359596.7:c.7267A>G ENSP00000352608.2:p.Met2423Val
ENST00000360985.7:c.7264A>G ENSP00000354254.4:p.Met2422Val
ENST00000594335.5:c.719A>G
NM_000540.2:c.7267A>G , LRG_766t1:c.7267A>G NP_000531.2:p.Met2423Val
NM_001042723.1:c.7267A>G NP_001036188.1:p.Met2423Val
XM_006723317.1:c.7267A>G XP_006723380.1:p.Met2423Val
XM_006723319.1:c.7267A>G XP_006723382.1:p.Met2423Val
XM_011527204.1:c.7264A>G XP_011525506.1:p.Met2422Val
XM_011527205.1:c.7267A>G XP_011525507.1:p.Met2423Val
XM_006723317.2:c.7267A>G XP_006723380.1:p.Met2423Val
XM_006723319.2:c.7267A>G XP_006723382.1:p.Met2423Val
XM_011527205.2:c.7267A>G XP_011525507.1:p.Met2423Val
XR_001753735.1:n.7350A>G
NM_000540.3:c.7267A>G MANE Select NP_000531.2:p.Met2423Val
NM_001042723.2:c.7267A>G NP_001036188.1:p.Met2423Val
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