Canonical Allele Identifier: CA405669341
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1183794921
MyVariant Identifiers: chr19:g.38990598T>C (hg19) chr19:g.38499958T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499958T>C , CM000681.2:g.38499958T>C GRCh38
NC_000019.9:g.38990598T>C , CM000681.1:g.38990598T>C GRCh37
NC_000019.8:g.43682438T>C NCBI36
NG_008866.1:g.71259T>C , LRG_766:g.71259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7265T>C ENSP00000471601.2:p.Ile2422Thr
ENST00000359596.8:c.7265T>C MANE Select ENSP00000352608.2:p.Ile2422Thr
ENST00000355481.8:c.7265T>C ENSP00000347667.3:p.Ile2422Thr
ENST00000359596.7:c.7265T>C ENSP00000352608.2:p.Ile2422Thr
ENST00000360985.7:c.7262T>C ENSP00000354254.4:p.Ile2421Thr
ENST00000594335.5:c.717T>C
NM_000540.2:c.7265T>C , LRG_766t1:c.7265T>C NP_000531.2:p.Ile2422Thr
NM_001042723.1:c.7265T>C NP_001036188.1:p.Ile2422Thr
XM_006723317.1:c.7265T>C XP_006723380.1:p.Ile2422Thr
XM_006723319.1:c.7265T>C XP_006723382.1:p.Ile2422Thr
XM_011527204.1:c.7262T>C XP_011525506.1:p.Ile2421Thr
XM_011527205.1:c.7265T>C XP_011525507.1:p.Ile2422Thr
XM_006723317.2:c.7265T>C XP_006723380.1:p.Ile2422Thr
XM_006723319.2:c.7265T>C XP_006723382.1:p.Ile2422Thr
XM_011527205.2:c.7265T>C XP_011525507.1:p.Ile2422Thr
XR_001753735.1:n.7348T>C
NM_000540.3:c.7265T>C MANE Select NP_000531.2:p.Ile2422Thr
NM_001042723.2:c.7265T>C NP_001036188.1:p.Ile2422Thr
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