Canonical Allele Identifier: CA405672337

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1364126
• ClinVar RCV Id: RCV001937354
• dbSNP Id: rs2145844223
• gnomAD v4: 19-38565188-C-T
• MyVariant Identifiers: chr19:g.39055828C>T (hg19) ; chr19:g.38565188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565188C>T , CM000681.2:g.38565188C>T	GRCh38
NC_000019.9:g.39055828C>T , CM000681.1:g.39055828C>T	GRCh37
NC_000019.8:g.43747668C>T	NCBI36
NG_008866.1:g.136489C>T , LRG_766:g.136489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1264C>T
ENST00000689936.1:c.1246C>T
ENST00000359596.8:c.12854C>T MANE Select	ENSP00000352608.2:p.Thr4285Met
ENST00000355481.8:c.12839C>T	ENSP00000347667.3:p.Thr4280Met
ENST00000359596.7:c.12854C>T	ENSP00000352608.2:p.Thr4285Met
ENST00000360985.7:c.12836C>T	ENSP00000354254.4:p.Thr4279Met
ENST00000594335.5:c.6223C>T
NM_000540.2:c.12854C>T , LRG_766t1:c.12854C>T	NP_000531.2:p.Thr4285Met
NM_001042723.1:c.12839C>T	NP_001036188.1:p.Thr4280Met
XM_006723317.1:c.12836C>T	XP_006723380.1:p.Thr4279Met
XM_006723319.1:c.12821C>T	XP_006723382.1:p.Thr4274Met
XM_011527204.1:c.12851C>T	XP_011525506.1:p.Thr4284Met
XM_011527205.1:c.12854C>T	XP_011525507.1:p.Thr4285Met
XM_006723317.2:c.12836C>T	XP_006723380.1:p.Thr4279Met
XM_006723319.2:c.12821C>T	XP_006723382.1:p.Thr4274Met
XM_011527205.2:c.12854C>T	XP_011525507.1:p.Thr4285Met
NM_000540.3:c.12854C>T MANE Select	NP_000531.2:p.Thr4285Met
NM_001042723.2:c.12839C>T	NP_001036188.1:p.Thr4280Met