Canonical Allele Identifier: CA060836

Gene: RYR1

Linked Data

• ClinVar Variation Id: 449641
• ClinVar RCV Id: RCV001851492 ; RCV002497013
• dbSNP Id: rs142929172
• ExAC: 19:39063948 G / A
• gnomAD v2: 19-39063948-G-A
• gnomAD v3: 19-38573308-G-A
• gnomAD v4: 19-38573308-G-A
• MyVariant Identifiers: chr19:g.39063948G>A (hg19) ; chr19:g.38573308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573308G>A , CM000681.2:g.38573308G>A	GRCh38
NC_000019.9:g.39063948G>A , CM000681.1:g.39063948G>A	GRCh37
NC_000019.8:g.43755788G>A	NCBI36
NG_008866.1:g.144609G>A , LRG_766:g.144609G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1065+1G>A
ENST00000688602.1:c.2462+1G>A
ENST00000689936.1:c.2434+1G>A
ENST00000359596.8:c.14129+1G>A MANE Select	ENSP00000352608.2:n.14129+1G>A
ENST00000355481.8:c.14114+1G>A	ENSP00000347667.3:n.14114+1G>A
ENST00000359596.7:c.14129+1G>A	ENSP00000352608.2:n.14129+1G>A
ENST00000360985.7:c.14111+1G>A	ENSP00000354254.4:n.14111+1G>A
NM_000540.2:c.14129+1G>A , LRG_766t1:c.14129+1G>A	NP_000531.2:n.14129+1G>A
NM_001042723.1:c.14114+1G>A	NP_001036188.1:n.14114+1G>A
XM_006723317.1:c.14111+1G>A	XP_006723380.1:n.14111+1G>A
XM_006723319.1:c.14096+1G>A	XP_006723382.1:n.14096+1G>A
XM_011527204.1:c.14126+1G>A	XP_011525506.1:n.14126+1G>A
XM_011527205.1:c.14042+1G>A	XP_011525507.1:n.14042+1G>A
XM_006723317.2:c.14111+1G>A	XP_006723380.1:n.14111+1G>A
XM_006723319.2:c.14096+1G>A	XP_006723382.1:n.14096+1G>A
XM_011527205.2:c.14042+1G>A	XP_011525507.1:n.14042+1G>A
NM_000540.3:c.14129+1G>A MANE Select	NP_000531.2:n.14129+1G>A
NM_001042723.2:c.14114+1G>A	NP_001036188.1:n.14114+1G>A