Canonical Allele Identifier: CA059604

Gene: RYR1

Linked Data

• ClinVar Variation Id: 765109
• ClinVar RCV Id: RCV001485756
• dbSNP Id: rs769515592
• ExAC: 19:39056126 C / T
• gnomAD v2: 19-39056126-C-T
• gnomAD v3: 19-38565486-C-T
• gnomAD v4: 19-38565486-C-T
• MyVariant Identifiers: chr19:g.39056126C>T (hg19) ; chr19:g.38565486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565486C>T , CM000681.2:g.38565486C>T	GRCh38
NC_000019.9:g.39056126C>T , CM000681.1:g.39056126C>T	GRCh37
NC_000019.8:g.43747966C>T	NCBI36
NG_008866.1:g.136787C>T , LRG_766:g.136787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.88C>T
ENST00000688602.1:c.1562C>T
ENST00000689936.1:c.1544C>T
ENST00000359596.8:c.13152C>T MANE Select	ENSP00000352608.2:p.Pro4384=
ENST00000355481.8:c.13137C>T	ENSP00000347667.3:p.Pro4379=
ENST00000359596.7:c.13152C>T	ENSP00000352608.2:p.Pro4384=
ENST00000360985.7:c.13134C>T	ENSP00000354254.4:p.Pro4378=
NM_000540.2:c.13152C>T , LRG_766t1:c.13152C>T	NP_000531.2:p.Pro4384=
NM_001042723.1:c.13137C>T	NP_001036188.1:p.Pro4379=
XM_006723317.1:c.13134C>T	XP_006723380.1:p.Pro4378=
XM_006723319.1:c.13119C>T	XP_006723382.1:p.Pro4373=
XM_011527204.1:c.13149C>T	XP_011525506.1:p.Pro4383=
XM_011527205.1:c.13152C>T	XP_011525507.1:p.Pro4384=
XM_006723317.2:c.13134C>T	XP_006723380.1:p.Pro4378=
XM_006723319.2:c.13119C>T	XP_006723382.1:p.Pro4373=
XM_011527205.2:c.13152C>T	XP_011525507.1:p.Pro4384=
NM_000540.3:c.13152C>T MANE Select	NP_000531.2:p.Pro4384=
NM_001042723.2:c.13137C>T	NP_001036188.1:p.Pro4379=