Canonical Allele Identifier: CA507245130
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063834T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573194T>C , CM000681.2:g.38573194T>C GRCh38
NC_000019.9:g.39063834T>C , CM000681.1:g.39063834T>C GRCh37
NC_000019.8:g.43755674T>C NCBI36
NG_008866.1:g.144495T>C , LRG_766:g.144495T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.952T>C
ENST00000688602.1:c.2349T>C
ENST00000689936.1:c.2321T>C
ENST00000359596.8:c.14016T>C MANE Select ENSP00000352608.2:p.Phe4672=
ENST00000355481.8:c.14001T>C ENSP00000347667.3:p.Phe4667=
ENST00000359596.7:c.14016T>C ENSP00000352608.2:p.Phe4672=
ENST00000360985.7:c.13998T>C ENSP00000354254.4:p.Phe4666=
NM_000540.2:c.14016T>C , LRG_766t1:c.14016T>C NP_000531.2:p.Phe4672=
NM_001042723.1:c.14001T>C NP_001036188.1:p.Phe4667=
XM_006723317.1:c.13998T>C XP_006723380.1:p.Phe4666=
XM_006723319.1:c.13983T>C XP_006723382.1:p.Phe4661=
XM_011527204.1:c.14013T>C XP_011525506.1:p.Phe4671=
XM_011527205.1:c.13929T>C XP_011525507.1:p.Phe4643=
XM_006723317.2:c.13998T>C XP_006723380.1:p.Phe4666=
XM_006723319.2:c.13983T>C XP_006723382.1:p.Phe4661=
XM_011527205.2:c.13929T>C XP_011525507.1:p.Phe4643=
NM_000540.3:c.14016T>C MANE Select NP_000531.2:p.Phe4672=
NM_001042723.2:c.14001T>C NP_001036188.1:p.Phe4667=
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