Canonical Allele Identifier: CA405672473

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1962240
• ClinVar RCV Id: RCV002725987 ; RCV004067696
• gnomAD v4: 19-38565226-G-T
• MyVariant Identifiers: chr19:g.39055866G>T (hg19) ; chr19:g.38565226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565226G>T , CM000681.2:g.38565226G>T	GRCh38
NC_000019.9:g.39055866G>T , CM000681.1:g.39055866G>T	GRCh37
NC_000019.8:g.43747706G>T	NCBI36
NG_008866.1:g.136527G>T , LRG_766:g.136527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1302G>T
ENST00000689936.1:c.1284G>T
ENST00000359596.8:c.12892G>T MANE Select	ENSP00000352608.2:p.Val4298Leu
ENST00000355481.8:c.12877G>T	ENSP00000347667.3:p.Val4293Leu
ENST00000359596.7:c.12892G>T	ENSP00000352608.2:p.Val4298Leu
ENST00000360985.7:c.12874G>T	ENSP00000354254.4:p.Val4292Leu
ENST00000594335.5:c.6261G>T
NM_000540.2:c.12892G>T , LRG_766t1:c.12892G>T	NP_000531.2:p.Val4298Leu
NM_001042723.1:c.12877G>T	NP_001036188.1:p.Val4293Leu
XM_006723317.1:c.12874G>T	XP_006723380.1:p.Val4292Leu
XM_006723319.1:c.12859G>T	XP_006723382.1:p.Val4287Leu
XM_011527204.1:c.12889G>T	XP_011525506.1:p.Val4297Leu
XM_011527205.1:c.12892G>T	XP_011525507.1:p.Val4298Leu
XM_006723317.2:c.12874G>T	XP_006723380.1:p.Val4292Leu
XM_006723319.2:c.12859G>T	XP_006723382.1:p.Val4287Leu
XM_011527205.2:c.12892G>T	XP_011525507.1:p.Val4298Leu
NM_000540.3:c.12892G>T MANE Select	NP_000531.2:p.Val4298Leu
NM_001042723.2:c.12877G>T	NP_001036188.1:p.Val4293Leu