Canonical Allele Identifier: CA067270

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329039
• ClinVar RCV Id: RCV000325708 ; RCV000296508 ; RCV000388466 ; RCV000382455 ; RCV002057506
• dbSNP Id: rs776320867
• ExAC: 19:38979808 G / T
• gnomAD v2: 19-38979808-G-T
• gnomAD v3: 19-38489168-G-T
• gnomAD v4: 19-38489168-G-T
• MyVariant Identifiers: chr19:g.38979808G>T (hg19) ; chr19:g.38489168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38489168G>T , CM000681.2:g.38489168G>T	GRCh38
NC_000019.9:g.38979808G>T , CM000681.1:g.38979808G>T	GRCh37
NC_000019.8:g.43671648G>T	NCBI36
NG_008866.1:g.60469G>T , LRG_766:g.60469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.5548-9G>T	ENSP00000471601.2:n.5548-9G>T
ENST00000359596.8:c.5548-9G>T MANE Select	ENSP00000352608.2:n.5548-9G>T
ENST00000355481.8:c.5548-9G>T	ENSP00000347667.3:n.5548-9G>T
ENST00000359596.7:c.5548-9G>T	ENSP00000352608.2:n.5548-9G>T
ENST00000360985.7:c.5545-9G>T	ENSP00000354254.4:n.5545-9G>T
NM_000540.2:c.5548-9G>T , LRG_766t1:c.5548-9G>T	NP_000531.2:n.5548-9G>T
NM_001042723.1:c.5548-9G>T	NP_001036188.1:n.5548-9G>T
XM_006723317.1:c.5548-9G>T	XP_006723380.1:n.5548-9G>T
XM_006723319.1:c.5548-9G>T	XP_006723382.1:n.5548-9G>T
XM_011527204.1:c.5545-9G>T	XP_011525506.1:n.5545-9G>T
XM_011527205.1:c.5548-9G>T	XP_011525507.1:n.5548-9G>T
XM_006723317.2:c.5548-9G>T	XP_006723380.1:n.5548-9G>T
XM_006723319.2:c.5548-9G>T	XP_006723382.1:n.5548-9G>T
XM_011527205.2:c.5548-9G>T	XP_011525507.1:n.5548-9G>T
XR_001753735.1:n.5631-9G>T
NM_000540.3:c.5548-9G>T MANE Select	NP_000531.2:n.5548-9G>T
NM_001042723.2:c.5548-9G>T	NP_001036188.1:n.5548-9G>T