Canonical Allele Identifier: CA060823

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329134
• ClinVar RCV Id: RCV000314047 ; RCV000349023 ; RCV000352552 ; RCV000399675 ; RCV000861778
• dbSNP Id: rs546280470
• ExAC: 19:39063957 C / A
• gnomAD v2: 19-39063957-C-A
• gnomAD v3: 19-38573317-C-A
• gnomAD v4: 19-38573317-C-A
• MyVariant Identifiers: chr19:g.39063957C>A (hg19) ; chr19:g.38573317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573317C>A , CM000681.2:g.38573317C>A	GRCh38
NC_000019.9:g.39063957C>A , CM000681.1:g.39063957C>A	GRCh37
NC_000019.8:g.43755797C>A	NCBI36
NG_008866.1:g.144618C>A , LRG_766:g.144618C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1065+10C>A
ENST00000688602.1:c.2462+10C>A
ENST00000689936.1:c.2434+10C>A
ENST00000359596.8:c.14129+10C>A MANE Select	ENSP00000352608.2:n.14129+10C>A
ENST00000355481.8:c.14114+10C>A	ENSP00000347667.3:n.14114+10C>A
ENST00000359596.7:c.14129+10C>A	ENSP00000352608.2:n.14129+10C>A
ENST00000360985.7:c.14111+10C>A	ENSP00000354254.4:n.14111+10C>A
NM_000540.2:c.14129+10C>A , LRG_766t1:c.14129+10C>A	NP_000531.2:n.14129+10C>A
NM_001042723.1:c.14114+10C>A	NP_001036188.1:n.14114+10C>A
XM_006723317.1:c.14111+10C>A	XP_006723380.1:n.14111+10C>A
XM_006723319.1:c.14096+10C>A	XP_006723382.1:n.14096+10C>A
XM_011527204.1:c.14126+10C>A	XP_011525506.1:n.14126+10C>A
XM_011527205.1:c.14042+10C>A	XP_011525507.1:n.14042+10C>A
XM_006723317.2:c.14111+10C>A	XP_006723380.1:n.14111+10C>A
XM_006723319.2:c.14096+10C>A	XP_006723382.1:n.14096+10C>A
XM_011527205.2:c.14042+10C>A	XP_011525507.1:n.14042+10C>A
NM_000540.3:c.14129+10C>A MANE Select	NP_000531.2:n.14129+10C>A
NM_001042723.2:c.14114+10C>A	NP_001036188.1:n.14114+10C>A