Canonical Allele Identifier: CA405687698

Gene: RYR1

Linked Data

• ClinVar Variation Id: 544455
• ClinVar RCV Id: RCV000655602 ; RCV000721383 ; RCV001592838
• dbSNP Id: rs1555803922
• MyVariant Identifiers: chr19:g.39071056C>T (hg19) ; chr19:g.38580416C>T (hg38)
• ERepo: CA405687698/MONDO:0018493/012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580416C>T , CM000681.2:g.38580416C>T	GRCh38
NC_000019.9:g.39071056C>T , CM000681.1:g.39071056C>T	GRCh37
NC_000019.8:g.43762896C>T	NCBI36
NG_008866.1:g.151717C>T , LRG_766:g.151717C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1494C>T
ENST00000688602.1:c.2891C>T
ENST00000689936.1:c.2863C>T
ENST00000359596.8:c.14558C>T MANE Select	ENSP00000352608.2:p.Thr4853Ile
ENST00000355481.8:c.14543C>T	ENSP00000347667.3:p.Thr4848Ile
ENST00000359596.7:c.14558C>T	ENSP00000352608.2:p.Thr4853Ile
ENST00000360985.7:c.14540C>T	ENSP00000354254.4:p.Thr4847Ile
NM_000540.2:c.14558C>T , LRG_766t1:c.14558C>T	NP_000531.2:p.Thr4853Ile
NM_001042723.1:c.14543C>T	NP_001036188.1:p.Thr4848Ile
XM_006723317.1:c.14540C>T	XP_006723380.1:p.Thr4847Ile
XM_006723319.1:c.14525C>T	XP_006723382.1:p.Thr4842Ile
XM_011527204.1:c.14555C>T	XP_011525506.1:p.Thr4852Ile
XM_011527205.1:c.14471C>T	XP_011525507.1:p.Thr4824Ile
XM_006723317.2:c.14540C>T	XP_006723380.1:p.Thr4847Ile
XM_006723319.2:c.14525C>T	XP_006723382.1:p.Thr4842Ile
XM_011527205.2:c.14471C>T	XP_011525507.1:p.Thr4824Ile
NM_000540.3:c.14558C>T MANE Select	NP_000531.2:p.Thr4853Ile
NM_001042723.2:c.14543C>T	NP_001036188.1:p.Thr4848Ile