Canonical Allele Identifier: CA405687828

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1496680
• ClinVar RCV Id: RCV002028576
• dbSNP Id: rs2145896745
• MyVariant Identifiers: chr19:g.39071085T>G (hg19) ; chr19:g.38580445T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580445T>G , CM000681.2:g.38580445T>G	GRCh38
NC_000019.9:g.39071085T>G , CM000681.1:g.39071085T>G	GRCh37
NC_000019.8:g.43762925T>G	NCBI36
NG_008866.1:g.151746T>G , LRG_766:g.151746T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1523T>G
ENST00000688602.1:c.2920T>G
ENST00000689936.1:c.2892T>G
ENST00000359596.8:c.14587T>G MANE Select	ENSP00000352608.2:p.Phe4863Val
ENST00000355481.8:c.14572T>G	ENSP00000347667.3:p.Phe4858Val
ENST00000359596.7:c.14587T>G	ENSP00000352608.2:p.Phe4863Val
ENST00000360985.7:c.14569T>G	ENSP00000354254.4:p.Phe4857Val
NM_000540.2:c.14587T>G , LRG_766t1:c.14587T>G	NP_000531.2:p.Phe4863Val
NM_001042723.1:c.14572T>G	NP_001036188.1:p.Phe4858Val
XM_006723317.1:c.14569T>G	XP_006723380.1:p.Phe4857Val
XM_006723319.1:c.14554T>G	XP_006723382.1:p.Phe4852Val
XM_011527204.1:c.14584T>G	XP_011525506.1:p.Phe4862Val
XM_011527205.1:c.14500T>G	XP_011525507.1:p.Phe4834Val
XM_006723317.2:c.14569T>G	XP_006723380.1:p.Phe4857Val
XM_006723319.2:c.14554T>G	XP_006723382.1:p.Phe4852Val
XM_011527205.2:c.14500T>G	XP_011525507.1:p.Phe4834Val
NM_000540.3:c.14587T>G MANE Select	NP_000531.2:p.Phe4863Val
NM_001042723.2:c.14572T>G	NP_001036188.1:p.Phe4858Val