Canonical Allele Identifier: CA405682571

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2914108
• ClinVar RCV Id: RCV003757101 ; RCV004005908
• dbSNP Id: rs1341205179
• gnomAD v4: 19-38573289-G-A
• MyVariant Identifiers: chr19:g.39063929G>A (hg19) ; chr19:g.38573289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573289G>A , CM000681.2:g.38573289G>A	GRCh38
NC_000019.9:g.39063929G>A , CM000681.1:g.39063929G>A	GRCh37
NC_000019.8:g.43755769G>A	NCBI36
NG_008866.1:g.144590G>A , LRG_766:g.144590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1047G>A
ENST00000688602.1:c.2444G>A
ENST00000689936.1:c.2416G>A
ENST00000359596.8:c.14111G>A MANE Select	ENSP00000352608.2:p.Arg4704Gln
ENST00000355481.8:c.14096G>A	ENSP00000347667.3:p.Arg4699Gln
ENST00000359596.7:c.14111G>A	ENSP00000352608.2:p.Arg4704Gln
ENST00000360985.7:c.14093G>A	ENSP00000354254.4:p.Arg4698Gln
NM_000540.2:c.14111G>A , LRG_766t1:c.14111G>A	NP_000531.2:p.Arg4704Gln
NM_001042723.1:c.14096G>A	NP_001036188.1:p.Arg4699Gln
XM_006723317.1:c.14093G>A	XP_006723380.1:p.Arg4698Gln
XM_006723319.1:c.14078G>A	XP_006723382.1:p.Arg4693Gln
XM_011527204.1:c.14108G>A	XP_011525506.1:p.Arg4703Gln
XM_011527205.1:c.14024G>A	XP_011525507.1:p.Arg4675Gln
XM_006723317.2:c.14093G>A	XP_006723380.1:p.Arg4698Gln
XM_006723319.2:c.14078G>A	XP_006723382.1:p.Arg4693Gln
XM_011527205.2:c.14024G>A	XP_011525507.1:p.Arg4675Gln
NM_000540.3:c.14111G>A MANE Select	NP_000531.2:p.Arg4704Gln
NM_001042723.2:c.14096G>A	NP_001036188.1:p.Arg4699Gln