Canonical Allele Identifier: CA023939

Gene: RYR1

Linked Data

• ClinVar Variation Id: 198961
• ClinVar RCV Id: RCV000180427 ; RCV001852247 ; RCV002500520 ; RCV003996587
• dbSNP Id: rs794727946
• gnomAD v2: 19-39034204-G-A
• gnomAD v3: 19-38543564-G-A
• gnomAD v4: 19-38543564-G-A
• COSMIC: COSM6230824
• MyVariant Identifiers: chr19:g.39034204G>A (hg19) ; chr19:g.38543564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543564G>A , CM000681.2:g.38543564G>A	GRCh38
NC_000019.9:g.39034204G>A , CM000681.1:g.39034204G>A	GRCh37
NC_000019.8:g.43726044G>A	NCBI36
NG_008866.1:g.114865G>A , LRG_766:g.114865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.221G>A
ENST00000689936.1:c.203G>A
ENST00000359596.8:c.11811G>A MANE Select	ENSP00000352608.2:p.Ser3937=
ENST00000355481.8:c.11796G>A	ENSP00000347667.3:p.Ser3932=
ENST00000359596.7:c.11811G>A	ENSP00000352608.2:p.Ser3937=
ENST00000360985.7:c.11793G>A	ENSP00000354254.4:p.Ser3931=
ENST00000593322.1:c.420G>A
ENST00000594335.5:c.5180G>A
NM_000540.2:c.11811G>A , LRG_766t1:c.11811G>A	NP_000531.2:p.Ser3937=
NM_001042723.1:c.11796G>A	NP_001036188.1:p.Ser3932=
XM_006723317.1:c.11793G>A	XP_006723380.1:p.Ser3931=
XM_006723319.1:c.11778G>A	XP_006723382.1:p.Ser3926=
XM_011527204.1:c.11808G>A	XP_011525506.1:p.Ser3936=
XM_011527205.1:c.11811G>A	XP_011525507.1:p.Ser3937=
XM_006723317.2:c.11793G>A	XP_006723380.1:p.Ser3931=
XM_006723319.2:c.11778G>A	XP_006723382.1:p.Ser3926=
XM_011527205.2:c.11811G>A	XP_011525507.1:p.Ser3937=
NM_000540.3:c.11811G>A MANE Select	NP_000531.2:p.Ser3937=
NM_001042723.2:c.11796G>A	NP_001036188.1:p.Ser3932=