Canonical Allele Identifier: CA882064614

Gene: RYR1

Linked Data

• dbSNP Id: rs1279787720
• gnomAD v3: 19-38580216-C-T
• gnomAD v4: 19-38580216-C-T
• MyVariant Identifiers: chr19:g.39070856C>T (hg19) ; chr19:g.38580216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580216C>T , CM000681.2:g.38580216C>T	GRCh38
NC_000019.9:g.39070856C>T , CM000681.1:g.39070856C>T	GRCh37
NC_000019.8:g.43762696C>T	NCBI36
NG_008866.1:g.151517C>T , LRG_766:g.151517C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1447+88C>T
ENST00000688602.1:c.2844+88C>T
ENST00000689936.1:c.2816+88C>T
ENST00000359596.8:c.14511+88C>T MANE Select	ENSP00000352608.2:n.14511+88C>T
ENST00000355481.8:c.14496+88C>T	ENSP00000347667.3:n.14496+88C>T
ENST00000359596.7:c.14511+88C>T	ENSP00000352608.2:n.14511+88C>T
ENST00000360985.7:c.14493+88C>T	ENSP00000354254.4:n.14493+88C>T
NM_000540.2:c.14511+88C>T , LRG_766t1:c.14511+88C>T	NP_000531.2:n.14511+88C>T
NM_001042723.1:c.14496+88C>T	NP_001036188.1:n.14496+88C>T
XM_006723317.1:c.14493+88C>T	XP_006723380.1:n.14493+88C>T
XM_006723319.1:c.14478+88C>T	XP_006723382.1:n.14478+88C>T
XM_011527204.1:c.14508+88C>T	XP_011525506.1:n.14508+88C>T
XM_011527205.1:c.14424+88C>T	XP_011525507.1:n.14424+88C>T
XM_006723317.2:c.14493+88C>T	XP_006723380.1:n.14493+88C>T
XM_006723319.2:c.14478+88C>T	XP_006723382.1:n.14478+88C>T
XM_011527205.2:c.14424+88C>T	XP_011525507.1:n.14424+88C>T
NM_000540.3:c.14511+88C>T MANE Select	NP_000531.2:n.14511+88C>T
NM_001042723.2:c.14496+88C>T	NP_001036188.1:n.14496+88C>T