Canonical Allele Identifier: CA405681005

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435603
• ClinVar RCV Id: RCV003135877
• MyVariant Identifiers: chr19:g.39062821A>C (hg19) ; chr19:g.38572181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572181A>C , CM000681.2:g.38572181A>C	GRCh38
NC_000019.9:g.39062821A>C , CM000681.1:g.39062821A>C	GRCh37
NC_000019.8:g.43754661A>C	NCBI36
NG_008866.1:g.143482A>C , LRG_766:g.143482A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.845A>C
ENST00000688602.1:c.2242A>C
ENST00000689936.1:c.2214A>C
ENST00000359596.8:c.13909A>C MANE Select	ENSP00000352608.2:p.Thr4637Pro
ENST00000355481.8:c.13894A>C	ENSP00000347667.3:p.Thr4632Pro
ENST00000359596.7:c.13909A>C	ENSP00000352608.2:p.Thr4637Pro
ENST00000360985.7:c.13891A>C	ENSP00000354254.4:p.Thr4631Pro
ENST00000593677.1:c.369A>C
NM_000540.2:c.13909A>C , LRG_766t1:c.13909A>C	NP_000531.2:p.Thr4637Pro
NM_001042723.1:c.13894A>C	NP_001036188.1:p.Thr4632Pro
XM_006723317.1:c.13891A>C	XP_006723380.1:p.Thr4631Pro
XM_006723319.1:c.13876A>C	XP_006723382.1:p.Thr4626Pro
XM_011527204.1:c.13906A>C	XP_011525506.1:p.Thr4636Pro
XM_011527205.1:c.13822A>C	XP_011525507.1:p.Thr4608Pro
XM_006723317.2:c.13891A>C	XP_006723380.1:p.Thr4631Pro
XM_006723319.2:c.13876A>C	XP_006723382.1:p.Thr4626Pro
XM_011527205.2:c.13822A>C	XP_011525507.1:p.Thr4608Pro
NM_000540.3:c.13909A>C MANE Select	NP_000531.2:p.Thr4637Pro
NM_001042723.2:c.13894A>C	NP_001036188.1:p.Thr4632Pro