Canonical Allele Identifier: CA308114034

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1428315
• ClinVar RCV Id: RCV001936243 ; RCV002484612
• dbSNP Id: rs572103362
• gnomAD v2: 19-39062686-G-A
• gnomAD v3: 19-38572046-G-A
• gnomAD v4: 19-38572046-G-A
• COSMIC: COSM3533504
• MyVariant Identifiers: chr19:g.39062686G>A (hg19) ; chr19:g.38572046G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572046G>A , CM000681.2:g.38572046G>A	GRCh38
NC_000019.9:g.39062686G>A , CM000681.1:g.39062686G>A	GRCh37
NC_000019.8:g.43754526G>A	NCBI36
NG_008866.1:g.143347G>A , LRG_766:g.143347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.710G>A
ENST00000688602.1:c.2107G>A
ENST00000689936.1:c.2079G>A
ENST00000359596.8:c.13774G>A MANE Select	ENSP00000352608.2:p.Asp4592Asn
ENST00000355481.8:c.13759G>A	ENSP00000347667.3:p.Asp4587Asn
ENST00000359596.7:c.13774G>A	ENSP00000352608.2:p.Asp4592Asn
ENST00000360985.7:c.13756G>A	ENSP00000354254.4:p.Asp4586Asn
ENST00000593677.1:c.234G>A
NM_000540.2:c.13774G>A , LRG_766t1:c.13774G>A	NP_000531.2:p.Asp4592Asn
NM_001042723.1:c.13759G>A	NP_001036188.1:p.Asp4587Asn
XM_006723317.1:c.13756G>A	XP_006723380.1:p.Asp4586Asn
XM_006723319.1:c.13741G>A	XP_006723382.1:p.Asp4581Asn
XM_011527204.1:c.13771G>A	XP_011525506.1:p.Asp4591Asn
XM_011527205.1:c.13687G>A	XP_011525507.1:p.Asp4563Asn
XM_006723317.2:c.13756G>A	XP_006723380.1:p.Asp4586Asn
XM_006723319.2:c.13741G>A	XP_006723382.1:p.Asp4581Asn
XM_011527205.2:c.13687G>A	XP_011525507.1:p.Asp4563Asn
NM_000540.3:c.13774G>A MANE Select	NP_000531.2:p.Asp4592Asn
NM_001042723.2:c.13759G>A	NP_001036188.1:p.Asp4587Asn