Canonical Allele Identifier: CA405661143

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2901490
• ClinVar RCV Id: RCV003756894
• gnomAD v4: 19-38543365-G-T
• MyVariant Identifiers: chr19:g.39034005G>T (hg19) ; chr19:g.38543365G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543365G>T , CM000681.2:g.38543365G>T	GRCh38
NC_000019.9:g.39034005G>T , CM000681.1:g.39034005G>T	GRCh37
NC_000019.8:g.43725845G>T	NCBI36
NG_008866.1:g.114666G>T , LRG_766:g.114666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.118G>T
ENST00000689936.1:c.100G>T
ENST00000359596.8:c.11708G>T MANE Select	ENSP00000352608.2:p.Arg3903Leu
ENST00000355481.8:c.11693G>T	ENSP00000347667.3:p.Arg3898Leu
ENST00000359596.7:c.11708G>T	ENSP00000352608.2:p.Arg3903Leu
ENST00000360985.7:c.11690G>T	ENSP00000354254.4:p.Arg3897Leu
ENST00000593322.1:c.317G>T
ENST00000594335.5:c.5077G>T
NM_000540.2:c.11708G>T , LRG_766t1:c.11708G>T	NP_000531.2:p.Arg3903Leu
NM_001042723.1:c.11693G>T	NP_001036188.1:p.Arg3898Leu
XM_006723317.1:c.11690G>T	XP_006723380.1:p.Arg3897Leu
XM_006723319.1:c.11675G>T	XP_006723382.1:p.Arg3892Leu
XM_011527204.1:c.11705G>T	XP_011525506.1:p.Arg3902Leu
XM_011527205.1:c.11708G>T	XP_011525507.1:p.Arg3903Leu
XM_006723317.2:c.11690G>T	XP_006723380.1:p.Arg3897Leu
XM_006723319.2:c.11675G>T	XP_006723382.1:p.Arg3892Leu
XM_011527205.2:c.11708G>T	XP_011525507.1:p.Arg3903Leu
NM_000540.3:c.11708G>T MANE Select	NP_000531.2:p.Arg3903Leu
NM_001042723.2:c.11693G>T	NP_001036188.1:p.Arg3898Leu