Canonical Allele Identifier: CA023962

Gene: RYR1

Linked Data

• ClinVar Variation Id: 201152
• ClinVar RCV Id: RCV000210653 ; RCV000542897 ; RCV000721259 ; RCV002288788 ; RCV003147380 ; RCV003114333
• dbSNP Id: rs794728696
• MyVariant Identifiers: chr19:g.39037155C>T (hg19) ; chr19:g.38546515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38546515C>T , CM000681.2:g.38546515C>T	GRCh38
NC_000019.9:g.39037155C>T , CM000681.1:g.39037155C>T	GRCh37
NC_000019.8:g.43728995C>T	NCBI36
NG_008866.1:g.117816C>T , LRG_766:g.117816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.493C>T
ENST00000689936.1:c.475C>T
ENST00000359596.8:c.12083C>T MANE Select	ENSP00000352608.2:p.Ser4028Leu
ENST00000355481.8:c.12068C>T	ENSP00000347667.3:p.Ser4023Leu
ENST00000359596.7:c.12083C>T	ENSP00000352608.2:p.Ser4028Leu
ENST00000360985.7:c.12065C>T	ENSP00000354254.4:p.Ser4022Leu
ENST00000593322.1:c.692C>T
ENST00000594335.5:c.5452C>T
NM_000540.2:c.12083C>T , LRG_766t1:c.12083C>T	NP_000531.2:p.Ser4028Leu
NM_001042723.1:c.12068C>T	NP_001036188.1:p.Ser4023Leu
XM_006723317.1:c.12065C>T	XP_006723380.1:p.Ser4022Leu
XM_006723319.1:c.12050C>T	XP_006723382.1:p.Ser4017Leu
XM_011527204.1:c.12080C>T	XP_011525506.1:p.Ser4027Leu
XM_011527205.1:c.12083C>T	XP_011525507.1:p.Ser4028Leu
XM_006723317.2:c.12065C>T	XP_006723380.1:p.Ser4022Leu
XM_006723319.2:c.12050C>T	XP_006723382.1:p.Ser4017Leu
XM_011527205.2:c.12083C>T	XP_011525507.1:p.Ser4028Leu
NM_000540.3:c.12083C>T MANE Select	NP_000531.2:p.Ser4028Leu
NM_001042723.2:c.12068C>T	NP_001036188.1:p.Ser4023Leu