Canonical Allele Identifier: CA507245155
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs2145873972
MyVariant Identifiers: chr19:g.39063873T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573233T>C , CM000681.2:g.38573233T>C GRCh38
NC_000019.9:g.39063873T>C , CM000681.1:g.39063873T>C GRCh37
NC_000019.8:g.43755713T>C NCBI36
NG_008866.1:g.144534T>C , LRG_766:g.144534T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.991T>C
ENST00000688602.1:c.2388T>C
ENST00000689936.1:c.2360T>C
ENST00000359596.8:c.14055T>C MANE Select ENSP00000352608.2:p.Asp4685=
ENST00000355481.8:c.14040T>C ENSP00000347667.3:p.Asp4680=
ENST00000359596.7:c.14055T>C ENSP00000352608.2:p.Asp4685=
ENST00000360985.7:c.14037T>C ENSP00000354254.4:p.Asp4679=
NM_000540.2:c.14055T>C , LRG_766t1:c.14055T>C NP_000531.2:p.Asp4685=
NM_001042723.1:c.14040T>C NP_001036188.1:p.Asp4680=
XM_006723317.1:c.14037T>C XP_006723380.1:p.Asp4679=
XM_006723319.1:c.14022T>C XP_006723382.1:p.Asp4674=
XM_011527204.1:c.14052T>C XP_011525506.1:p.Asp4684=
XM_011527205.1:c.13968T>C XP_011525507.1:p.Asp4656=
XM_006723317.2:c.14037T>C XP_006723380.1:p.Asp4679=
XM_006723319.2:c.14022T>C XP_006723382.1:p.Asp4674=
XM_011527205.2:c.13968T>C XP_011525507.1:p.Asp4656=
NM_000540.3:c.14055T>C MANE Select NP_000531.2:p.Asp4685=
NM_001042723.2:c.14040T>C NP_001036188.1:p.Asp4680=
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