Canonical Allele Identifier: CA405682530

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1301434
• ClinVar RCV Id: RCV001733441 ; RCV001775183 ; RCV002543912
• dbSNP Id: rs2145874187
• MyVariant Identifiers: chr19:g.39063922T>C (hg19) ; chr19:g.38573282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573282T>C , CM000681.2:g.38573282T>C	GRCh38
NC_000019.9:g.39063922T>C , CM000681.1:g.39063922T>C	GRCh37
NC_000019.8:g.43755762T>C	NCBI36
NG_008866.1:g.144583T>C , LRG_766:g.144583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1040T>C
ENST00000688602.1:c.2437T>C
ENST00000689936.1:c.2409T>C
ENST00000359596.8:c.14104T>C MANE Select	ENSP00000352608.2:p.Trp4702Arg
ENST00000355481.8:c.14089T>C	ENSP00000347667.3:p.Trp4697Arg
ENST00000359596.7:c.14104T>C	ENSP00000352608.2:p.Trp4702Arg
ENST00000360985.7:c.14086T>C	ENSP00000354254.4:p.Trp4696Arg
NM_000540.2:c.14104T>C , LRG_766t1:c.14104T>C	NP_000531.2:p.Trp4702Arg
NM_001042723.1:c.14089T>C	NP_001036188.1:p.Trp4697Arg
XM_006723317.1:c.14086T>C	XP_006723380.1:p.Trp4696Arg
XM_006723319.1:c.14071T>C	XP_006723382.1:p.Trp4691Arg
XM_011527204.1:c.14101T>C	XP_011525506.1:p.Trp4701Arg
XM_011527205.1:c.14017T>C	XP_011525507.1:p.Trp4673Arg
XM_006723317.2:c.14086T>C	XP_006723380.1:p.Trp4696Arg
XM_006723319.2:c.14071T>C	XP_006723382.1:p.Trp4691Arg
XM_011527205.2:c.14017T>C	XP_011525507.1:p.Trp4673Arg
NM_000540.3:c.14104T>C MANE Select	NP_000531.2:p.Trp4702Arg
NM_001042723.2:c.14089T>C	NP_001036188.1:p.Trp4697Arg