Canonical Allele Identifier: CA405669925

Gene: RYR1

Linked Data

• ClinVar Variation Id: 523895
• ClinVar RCV Id: RCV000627371
• dbSNP Id: rs1361451153
• gnomAD v4: 19-38561443-G-T
• MyVariant Identifiers: chr19:g.39052083G>T (hg19) ; chr19:g.38561443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561443G>T , CM000681.2:g.38561443G>T	GRCh38
NC_000019.9:g.39052083G>T , CM000681.1:g.39052083G>T	GRCh37
NC_000019.8:g.43743923G>T	NCBI36
NG_008866.1:g.132744G>T , LRG_766:g.132744G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1023G>T
ENST00000689936.1:c.1005G>T
ENST00000359596.8:c.12613G>T MANE Select	ENSP00000352608.2:p.Glu4205Ter
ENST00000355481.8:c.12598G>T	ENSP00000347667.3:p.Glu4200Ter
ENST00000359596.7:c.12613G>T	ENSP00000352608.2:p.Glu4205Ter
ENST00000360985.7:c.12595G>T	ENSP00000354254.4:p.Glu4199Ter
ENST00000594335.5:c.5982G>T
NM_000540.2:c.12613G>T , LRG_766t1:c.12613G>T	NP_000531.2:p.Glu4205Ter
NM_001042723.1:c.12598G>T	NP_001036188.1:p.Glu4200Ter
XM_006723317.1:c.12595G>T	XP_006723380.1:p.Glu4199Ter
XM_006723319.1:c.12580G>T	XP_006723382.1:p.Glu4194Ter
XM_011527204.1:c.12610G>T	XP_011525506.1:p.Glu4204Ter
XM_011527205.1:c.12613G>T	XP_011525507.1:p.Glu4205Ter
XM_006723317.2:c.12595G>T	XP_006723380.1:p.Glu4199Ter
XM_006723319.2:c.12580G>T	XP_006723382.1:p.Glu4194Ter
XM_011527205.2:c.12613G>T	XP_011525507.1:p.Glu4205Ter
NM_000540.3:c.12613G>T MANE Select	NP_000531.2:p.Glu4205Ter
NM_001042723.2:c.12598G>T	NP_001036188.1:p.Glu4200Ter