Canonical Allele Identifier: CA024093

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65951
• ClinVar RCV Id: RCV000056198 ; RCV000119494 ; RCV003591653
• dbSNP Id: rs118192139
• MyVariant Identifiers: chr19:g.39062864A>C (hg19) ; chr19:g.38572224A>C (hg38)
• PubMed: PMID:12565913 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572224A>C , CM000681.2:g.38572224A>C	GRCh38
NC_000019.9:g.39062864A>C , CM000681.1:g.39062864A>C	GRCh37
NC_000019.8:g.43754704A>C	NCBI36
NG_008866.1:g.143525A>C , LRG_766:g.143525A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.888A>C
ENST00000688602.1:c.2285A>C
ENST00000689936.1:c.2257A>C
ENST00000359596.8:c.13952A>C MANE Select	ENSP00000352608.2:p.His4651Pro
ENST00000355481.8:c.13937A>C	ENSP00000347667.3:p.His4646Pro
ENST00000359596.7:c.13952A>C	ENSP00000352608.2:p.His4651Pro
ENST00000360985.7:c.13934A>C	ENSP00000354254.4:p.His4645Pro
ENST00000593677.1:c.412A>C
NM_000540.2:c.13952A>C , LRG_766t1:c.13952A>C	NP_000531.2:p.His4651Pro
NM_001042723.1:c.13937A>C	NP_001036188.1:p.His4646Pro
XM_006723317.1:c.13934A>C	XP_006723380.1:p.His4645Pro
XM_006723319.1:c.13919A>C	XP_006723382.1:p.His4640Pro
XM_011527204.1:c.13949A>C	XP_011525506.1:p.His4650Pro
XM_011527205.1:c.13865A>C	XP_011525507.1:p.His4622Pro
XM_006723317.2:c.13934A>C	XP_006723380.1:p.His4645Pro
XM_006723319.2:c.13919A>C	XP_006723382.1:p.His4640Pro
XM_011527205.2:c.13865A>C	XP_011525507.1:p.His4622Pro
NM_000540.3:c.13952A>C MANE Select	NP_000531.2:p.His4651Pro
NM_001042723.2:c.13937A>C	NP_001036188.1:p.His4646Pro