Canonical Allele Identifier: CA060854

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1052409
• ClinVar RCV Id: RCV001360587 ; RCV001548539
• dbSNP Id: rs370212445
• ExAC: 19:39063947 C / T
• gnomAD v2: 19-39063947-C-T
• gnomAD v3: 19-38573307-C-T
• gnomAD v4: 19-38573307-C-T
• MyVariant Identifiers: chr19:g.39063947C>T (hg19) ; chr19:g.38573307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573307C>T , CM000681.2:g.38573307C>T	GRCh38
NC_000019.9:g.39063947C>T , CM000681.1:g.39063947C>T	GRCh37
NC_000019.8:g.43755787C>T	NCBI36
NG_008866.1:g.144608C>T , LRG_766:g.144608C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1065C>T
ENST00000688602.1:c.2462C>T
ENST00000689936.1:c.2434C>T
ENST00000359596.8:c.14129C>T MANE Select	ENSP00000352608.2:p.Pro4710Leu
ENST00000355481.8:c.14114C>T	ENSP00000347667.3:p.Pro4705Leu
ENST00000359596.7:c.14129C>T	ENSP00000352608.2:p.Pro4710Leu
ENST00000360985.7:c.14111C>T	ENSP00000354254.4:p.Pro4704Leu
NM_000540.2:c.14129C>T , LRG_766t1:c.14129C>T	NP_000531.2:p.Pro4710Leu
NM_001042723.1:c.14114C>T	NP_001036188.1:p.Pro4705Leu
XM_006723317.1:c.14111C>T	XP_006723380.1:p.Pro4704Leu
XM_006723319.1:c.14096C>T	XP_006723382.1:p.Pro4699Leu
XM_011527204.1:c.14126C>T	XP_011525506.1:p.Pro4709Leu
XM_011527205.1:c.14042C>T	XP_011525507.1:p.Pro4681Leu
XM_006723317.2:c.14111C>T	XP_006723380.1:p.Pro4704Leu
XM_006723319.2:c.14096C>T	XP_006723382.1:p.Pro4699Leu
XM_011527205.2:c.14042C>T	XP_011525507.1:p.Pro4681Leu
NM_000540.3:c.14129C>T MANE Select	NP_000531.2:p.Pro4710Leu
NM_001042723.2:c.14114C>T	NP_001036188.1:p.Pro4705Leu