Canonical Allele Identifier: CA059625

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329124
• ClinVar RCV Id: RCV000285745 ; RCV000336119 ; RCV000321065 ; RCV000380159 ; RCV000655645 ; RCV002225586
• dbSNP Id: rs543458339
• ExAC: 19:39056165 C / T
• gnomAD v2: 19-39056165-C-T
• gnomAD v3: 19-38565525-C-T
• gnomAD v4: 19-38565525-C-T
• MyVariant Identifiers: chr19:g.39056165C>T (hg19) ; chr19:g.38565525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565525C>T , CM000681.2:g.38565525C>T	GRCh38
NC_000019.9:g.39056165C>T , CM000681.1:g.39056165C>T	GRCh37
NC_000019.8:g.43748005C>T	NCBI36
NG_008866.1:g.136826C>T , LRG_766:g.136826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.127C>T
ENST00000688602.1:c.1601C>T
ENST00000689936.1:c.1583C>T
ENST00000359596.8:c.13191C>T MANE Select	ENSP00000352608.2:p.Ala4397=
ENST00000355481.8:c.13176C>T	ENSP00000347667.3:p.Ala4392=
ENST00000359596.7:c.13191C>T	ENSP00000352608.2:p.Ala4397=
ENST00000360985.7:c.13173C>T	ENSP00000354254.4:p.Ala4391=
NM_000540.2:c.13191C>T , LRG_766t1:c.13191C>T	NP_000531.2:p.Ala4397=
NM_001042723.1:c.13176C>T	NP_001036188.1:p.Ala4392=
XM_006723317.1:c.13173C>T	XP_006723380.1:p.Ala4391=
XM_006723319.1:c.13158C>T	XP_006723382.1:p.Ala4386=
XM_011527204.1:c.13188C>T	XP_011525506.1:p.Ala4396=
XM_011527205.1:c.13191C>T	XP_011525507.1:p.Ala4397=
XM_006723317.2:c.13173C>T	XP_006723380.1:p.Ala4391=
XM_006723319.2:c.13158C>T	XP_006723382.1:p.Ala4386=
XM_011527205.2:c.13191C>T	XP_011525507.1:p.Ala4397=
NM_000540.3:c.13191C>T MANE Select	NP_000531.2:p.Ala4397=
NM_001042723.2:c.13176C>T	NP_001036188.1:p.Ala4392=