Canonical Allele Identifier: CA16608213

Gene: RYR1

Linked Data

• ClinVar Variation Id: 379718
• ClinVar RCV Id: RCV002502495
• dbSNP Id: rs113928116
• gnomAD v2: 19-39026711-G-T
• gnomAD v4: 19-38536071-G-T
• MyVariant Identifiers: chr19:g.39026711G>T (hg19) ; chr19:g.38536071G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38536071G>T , CM000681.2:g.38536071G>T	GRCh38
NC_000019.9:g.39026711G>T , CM000681.1:g.39026711G>T	GRCh37
NC_000019.8:g.43718551G>T	NCBI36
NG_008866.1:g.107372G>T , LRG_766:g.107372G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359596.8:c.11590+1G>T MANE Select	ENSP00000352608.2:n.11590+1G>T
ENST00000355481.8:c.11575+1G>T	ENSP00000347667.3:n.11575+1G>T
ENST00000359596.7:c.11590+1G>T	ENSP00000352608.2:n.11590+1G>T
ENST00000360985.7:c.11572+1G>T	ENSP00000354254.4:n.11572+1G>T
ENST00000593322.1:c.217+679G>T
ENST00000594335.5:c.4977+1G>T
ENST00000596431.5:c.319+1G>T	ENSP00000470848.1:n.319+1G>T
NM_000540.2:c.11590+1G>T , LRG_766t1:c.11590+1G>T	NP_000531.2:n.11590+1G>T
NM_001042723.1:c.11575+1G>T	NP_001036188.1:n.11575+1G>T
XM_006723317.1:c.11590+1G>T	XP_006723380.1:n.11590+1G>T
XM_006723319.1:c.11575+1G>T	XP_006723382.1:n.11575+1G>T
XM_011527204.1:c.11587+1G>T	XP_011525506.1:n.11587+1G>T
XM_011527205.1:c.11590+1G>T	XP_011525507.1:n.11590+1G>T
XM_006723317.2:c.11590+1G>T	XP_006723380.1:n.11590+1G>T
XM_006723319.2:c.11575+1G>T	XP_006723382.1:n.11575+1G>T
XM_011527205.2:c.11590+1G>T	XP_011525507.1:n.11590+1G>T
NM_000540.3:c.11590+1G>T MANE Select	NP_000531.2:n.11590+1G>T
NM_001042723.2:c.11575+1G>T	NP_001036188.1:n.11575+1G>T