Canonical Allele Identifier: CA2584909155

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565511-G-GGCGAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565514_38565520dup , CM000681.2:g.38565514_38565520dup	GRCh38
NC_000019.9:g.39056154_39056160dup , CM000681.1:g.39056154_39056160dup	GRCh37
NC_000019.8:g.43747994_43748000dup	NCBI36
NG_008866.1:g.136815_136821dup , LRG_766:g.136815_136821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.116_122dup
ENST00000688602.1:c.1590_1596dup
ENST00000689936.1:c.1572_1578dup
ENST00000359596.8:c.13180_13186dup MANE Select	ENSP00000352608.2:p.Pro4396ArgfsTer?
ENST00000355481.8:c.13165_13171dup	ENSP00000347667.3:p.Pro4391ArgfsTer?
ENST00000359596.7:c.13180_13186dup	ENSP00000352608.2:p.Pro4396ArgfsTer?
ENST00000360985.7:c.13162_13168dup	ENSP00000354254.4:p.Pro4390ArgfsTer?
NM_000540.2:c.13180_13186dup , LRG_766t1:c.13180_13186dup	NP_000531.2:p.Pro4396ArgfsTer?
NM_001042723.1:c.13165_13171dup	NP_001036188.1:p.Pro4391ArgfsTer?
XM_006723317.1:c.13162_13168dup	XP_006723380.1:p.Pro4390ArgfsTer?
XM_006723319.1:c.13147_13153dup	XP_006723382.1:p.Pro4385ArgfsTer?
XM_011527204.1:c.13177_13183dup	XP_011525506.1:p.Pro4395ArgfsTer?
XM_011527205.1:c.13180_13186dup	XP_011525507.1:p.Pro4396ArgfsTer?
XM_006723317.2:c.13162_13168dup	XP_006723380.1:p.Pro4390ArgfsTer?
XM_006723319.2:c.13147_13153dup	XP_006723382.1:p.Pro4385ArgfsTer?
XM_011527205.2:c.13180_13186dup	XP_011525507.1:p.Pro4396ArgfsTer?
NM_000540.3:c.13180_13186dup MANE Select	NP_000531.2:p.Pro4396ArgfsTer?
NM_001042723.2:c.13165_13171dup	NP_001036188.1:p.Pro4391ArgfsTer?