Canonical Allele Identifier: CA405692249

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590476
• ClinVar RCV Id: RCV000721405
• dbSNP Id: rs1568613113
• MyVariant Identifiers: chr19:g.39076596T>G (hg19) ; chr19:g.38585956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585956T>G , CM000681.2:g.38585956T>G	GRCh38
NC_000019.9:g.39076596T>G , CM000681.1:g.39076596T>G	GRCh37
NC_000019.8:g.43768436T>G	NCBI36
NG_008866.1:g.157257T>G , LRG_766:g.157257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1758T>G
ENST00000688602.1:c.3155T>G
ENST00000689936.1:c.3127T>G
ENST00000692547.1:n.215T>G
ENST00000359596.8:c.14822T>G MANE Select	ENSP00000352608.2:p.Phe4941Cys
ENST00000355481.8:c.14807T>G	ENSP00000347667.3:p.Phe4936Cys
ENST00000359596.7:c.14822T>G	ENSP00000352608.2:p.Phe4941Cys
ENST00000360985.7:c.14804T>G	ENSP00000354254.4:p.Phe4935Cys
NM_000540.2:c.14822T>G , LRG_766t1:c.14822T>G	NP_000531.2:p.Phe4941Cys
NM_001042723.1:c.14807T>G	NP_001036188.1:p.Phe4936Cys
XM_006723317.1:c.14804T>G	XP_006723380.1:p.Phe4935Cys
XM_006723319.1:c.14789T>G	XP_006723382.1:p.Phe4930Cys
XM_011527204.1:c.14819T>G	XP_011525506.1:p.Phe4940Cys
XM_011527205.1:c.14735T>G	XP_011525507.1:p.Phe4912Cys
XM_006723317.2:c.14804T>G	XP_006723380.1:p.Phe4935Cys
XM_006723319.2:c.14789T>G	XP_006723382.1:p.Phe4930Cys
XM_011527205.2:c.14735T>G	XP_011525507.1:p.Phe4912Cys
NM_000540.3:c.14822T>G MANE Select	NP_000531.2:p.Phe4941Cys
NM_001042723.2:c.14807T>G	NP_001036188.1:p.Phe4936Cys