Canonical Allele Identifier: CA405662559

Gene: RYR1

Linked Data

• ClinVar Variation Id: 982757
• ClinVar RCV Id: RCV001262410
• dbSNP Id: rs748748397
• MyVariant Identifiers: chr19:g.39034298C>A (hg19) ; chr19:g.38543658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543658C>A , CM000681.2:g.38543658C>A	GRCh38
NC_000019.9:g.39034298C>A , CM000681.1:g.39034298C>A	GRCh37
NC_000019.8:g.43726138C>A	NCBI36
NG_008866.1:g.114959C>A , LRG_766:g.114959C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.315C>A
ENST00000689936.1:c.297C>A
ENST00000359596.8:c.11905C>A MANE Select	ENSP00000352608.2:p.Gln3969Lys
ENST00000355481.8:c.11890C>A	ENSP00000347667.3:p.Gln3964Lys
ENST00000359596.7:c.11905C>A	ENSP00000352608.2:p.Gln3969Lys
ENST00000360985.7:c.11887C>A	ENSP00000354254.4:p.Gln3963Lys
ENST00000593322.1:c.514C>A
ENST00000594335.5:c.5274C>A
NM_000540.2:c.11905C>A , LRG_766t1:c.11905C>A	NP_000531.2:p.Gln3969Lys
NM_001042723.1:c.11890C>A	NP_001036188.1:p.Gln3964Lys
XM_006723317.1:c.11887C>A	XP_006723380.1:p.Gln3963Lys
XM_006723319.1:c.11872C>A	XP_006723382.1:p.Gln3958Lys
XM_011527204.1:c.11902C>A	XP_011525506.1:p.Gln3968Lys
XM_011527205.1:c.11905C>A	XP_011525507.1:p.Gln3969Lys
XM_006723317.2:c.11887C>A	XP_006723380.1:p.Gln3963Lys
XM_006723319.2:c.11872C>A	XP_006723382.1:p.Gln3958Lys
XM_011527205.2:c.11905C>A	XP_011525507.1:p.Gln3969Lys
NM_000540.3:c.11905C>A MANE Select	NP_000531.2:p.Gln3969Lys
NM_001042723.2:c.11890C>A	NP_001036188.1:p.Gln3964Lys