Canonical Allele Identifier: CA060696

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329133
• ClinVar RCV Id: RCV000279016 ; RCV000282567 ; RCV000336443 ; RCV000374610 ; RCV002487452 ; RCV001323430
• dbSNP Id: rs765404523
• ExAC: 19:39062913 G / A
• gnomAD v2: 19-39062913-G-A
• gnomAD v3: 19-38572273-G-A
• gnomAD v4: 19-38572273-G-A
• MyVariant Identifiers: chr19:g.39062913G>A (hg19) ; chr19:g.38572273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572273G>A , CM000681.2:g.38572273G>A	GRCh38
NC_000019.9:g.39062913G>A , CM000681.1:g.39062913G>A	GRCh37
NC_000019.8:g.43754753G>A	NCBI36
NG_008866.1:g.143574G>A , LRG_766:g.143574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+3G>A
ENST00000688602.1:c.2331+3G>A
ENST00000689936.1:c.2303+3G>A
ENST00000359596.8:c.13998+3G>A MANE Select	ENSP00000352608.2:n.13998+3G>A
ENST00000355481.8:c.13983+3G>A	ENSP00000347667.3:n.13983+3G>A
ENST00000359596.7:c.13998+3G>A	ENSP00000352608.2:n.13998+3G>A
ENST00000360985.7:c.13980+3G>A	ENSP00000354254.4:n.13980+3G>A
NM_000540.2:c.13998+3G>A , LRG_766t1:c.13998+3G>A	NP_000531.2:n.13998+3G>A
NM_001042723.1:c.13983+3G>A	NP_001036188.1:n.13983+3G>A
XM_006723317.1:c.13980+3G>A	XP_006723380.1:n.13980+3G>A
XM_006723319.1:c.13965+3G>A	XP_006723382.1:n.13965+3G>A
XM_011527204.1:c.13995+3G>A	XP_011525506.1:n.13995+3G>A
XM_011527205.1:c.13911+3G>A	XP_011525507.1:n.13911+3G>A
XM_006723317.2:c.13980+3G>A	XP_006723380.1:n.13980+3G>A
XM_006723319.2:c.13965+3G>A	XP_006723382.1:n.13965+3G>A
XM_011527205.2:c.13911+3G>A	XP_011525507.1:n.13911+3G>A
NM_000540.3:c.13998+3G>A MANE Select	NP_000531.2:n.13998+3G>A
NM_001042723.2:c.13983+3G>A	NP_001036188.1:n.13983+3G>A