Canonical Allele Identifier: CA405682643

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2132034
• ClinVar RCV Id: RCV003036541
• MyVariant Identifiers: chr19:g.39063944C>G (hg19) ; chr19:g.38573304C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573304C>G , CM000681.2:g.38573304C>G	GRCh38
NC_000019.9:g.39063944C>G , CM000681.1:g.39063944C>G	GRCh37
NC_000019.8:g.43755784C>G	NCBI36
NG_008866.1:g.144605C>G , LRG_766:g.144605C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1062C>G
ENST00000688602.1:c.2459C>G
ENST00000689936.1:c.2431C>G
ENST00000359596.8:c.14126C>G MANE Select	ENSP00000352608.2:p.Thr4709Arg
ENST00000355481.8:c.14111C>G	ENSP00000347667.3:p.Thr4704Arg
ENST00000359596.7:c.14126C>G	ENSP00000352608.2:p.Thr4709Arg
ENST00000360985.7:c.14108C>G	ENSP00000354254.4:p.Thr4703Arg
NM_000540.2:c.14126C>G , LRG_766t1:c.14126C>G	NP_000531.2:p.Thr4709Arg
NM_001042723.1:c.14111C>G	NP_001036188.1:p.Thr4704Arg
XM_006723317.1:c.14108C>G	XP_006723380.1:p.Thr4703Arg
XM_006723319.1:c.14093C>G	XP_006723382.1:p.Thr4698Arg
XM_011527204.1:c.14123C>G	XP_011525506.1:p.Thr4708Arg
XM_011527205.1:c.14039C>G	XP_011525507.1:p.Thr4680Arg
XM_006723317.2:c.14108C>G	XP_006723380.1:p.Thr4703Arg
XM_006723319.2:c.14093C>G	XP_006723382.1:p.Thr4698Arg
XM_011527205.2:c.14039C>G	XP_011525507.1:p.Thr4680Arg
NM_000540.3:c.14126C>G MANE Select	NP_000531.2:p.Thr4709Arg
NM_001042723.2:c.14111C>G	NP_001036188.1:p.Thr4704Arg