Canonical Allele Identifier: CA507242677

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2155754
• ClinVar RCV Id: RCV003072499
• dbSNP Id: rs1972310342
• gnomAD v4: 19-38543842-C-T
• COSMIC: COSM996064
• MyVariant Identifiers: chr19:g.39034482C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543842C>T , CM000681.2:g.38543842C>T	GRCh38
NC_000019.9:g.39034482C>T , CM000681.1:g.39034482C>T	GRCh37
NC_000019.8:g.43726322C>T	NCBI36
NG_008866.1:g.115143C>T , LRG_766:g.115143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.389C>T
ENST00000689936.1:c.371C>T
ENST00000359596.8:c.11979C>T MANE Select	ENSP00000352608.2:p.His3993=
ENST00000355481.8:c.11964C>T	ENSP00000347667.3:p.His3988=
ENST00000359596.7:c.11979C>T	ENSP00000352608.2:p.His3993=
ENST00000360985.7:c.11961C>T	ENSP00000354254.4:p.His3987=
ENST00000593322.1:c.588C>T
ENST00000594335.5:c.5348C>T
NM_000540.2:c.11979C>T , LRG_766t1:c.11979C>T	NP_000531.2:p.His3993=
NM_001042723.1:c.11964C>T	NP_001036188.1:p.His3988=
XM_006723317.1:c.11961C>T	XP_006723380.1:p.His3987=
XM_006723319.1:c.11946C>T	XP_006723382.1:p.His3982=
XM_011527204.1:c.11976C>T	XP_011525506.1:p.His3992=
XM_011527205.1:c.11979C>T	XP_011525507.1:p.His3993=
XM_006723317.2:c.11961C>T	XP_006723380.1:p.His3987=
XM_006723319.2:c.11946C>T	XP_006723382.1:p.His3982=
XM_011527205.2:c.11979C>T	XP_011525507.1:p.His3993=
NM_000540.3:c.11979C>T MANE Select	NP_000531.2:p.His3993=
NM_001042723.2:c.11964C>T	NP_001036188.1:p.His3988=