Canonical Allele Identifier: CA057084

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329109
• ClinVar RCV Id: RCV000306797 ; RCV000363542 ; RCV000364857 ; RCV000391757 ; RCV001050295
• dbSNP Id: rs151239950
• ExAC: 19:39026637 C / T
• gnomAD v2: 19-39026637-C-T
• gnomAD v3: 19-38535997-C-T
• gnomAD v4: 19-38535997-C-T
• MyVariant Identifiers: chr19:g.39026637C>T (hg19) ; chr19:g.38535997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38535997C>T , CM000681.2:g.38535997C>T	GRCh38
NC_000019.9:g.39026637C>T , CM000681.1:g.39026637C>T	GRCh37
NC_000019.8:g.43718477C>T	NCBI36
NG_008866.1:g.107298C>T , LRG_766:g.107298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359596.8:c.11517C>T MANE Select	ENSP00000352608.2:p.Ser3839=
ENST00000355481.8:c.11502C>T	ENSP00000347667.3:p.Ser3834=
ENST00000359596.7:c.11517C>T	ENSP00000352608.2:p.Ser3839=
ENST00000360985.7:c.11499C>T	ENSP00000354254.4:p.Ser3833=
ENST00000593322.1:c.217+605C>T
ENST00000594335.5:c.4904C>T
ENST00000596431.5:c.246C>T	ENSP00000470848.1:p.Ser82=
ENST00000601514.5:c.798C>T	ENSP00000472497.1:p.Ser266=
NM_000540.2:c.11517C>T , LRG_766t1:c.11517C>T	NP_000531.2:p.Ser3839=
NM_001042723.1:c.11502C>T	NP_001036188.1:p.Ser3834=
XM_006723317.1:c.11517C>T	XP_006723380.1:p.Ser3839=
XM_006723319.1:c.11502C>T	XP_006723382.1:p.Ser3834=
XM_011527204.1:c.11514C>T	XP_011525506.1:p.Ser3838=
XM_011527205.1:c.11517C>T	XP_011525507.1:p.Ser3839=
XM_006723317.2:c.11517C>T	XP_006723380.1:p.Ser3839=
XM_006723319.2:c.11502C>T	XP_006723382.1:p.Ser3834=
XM_011527205.2:c.11517C>T	XP_011525507.1:p.Ser3839=
NM_000540.3:c.11517C>T MANE Select	NP_000531.2:p.Ser3839=
NM_001042723.2:c.11502C>T	NP_001036188.1:p.Ser3834=