Canonical Allele Identifier: CA2839675522

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580078dup , CM000681.2:g.38580078dup	GRCh38
NC_000019.9:g.39070718dup , CM000681.1:g.39070718dup	GRCh37
NC_000019.8:g.43762558dup	NCBI36
NG_008866.1:g.151379dup , LRG_766:g.151379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1397dup
ENST00000688602.1:c.2794dup
ENST00000689936.1:c.2766dup
ENST00000359596.8:c.14461dup MANE Select	ENSP00000352608.2:p.Val4821GlyfsTer?
ENST00000355481.8:c.14446dup	ENSP00000347667.3:p.Val4816GlyfsTer?
ENST00000359596.7:c.14461dup	ENSP00000352608.2:p.Val4821GlyfsTer?
ENST00000360985.7:c.14443dup	ENSP00000354254.4:p.Val4815GlyfsTer?
NM_000540.2:c.14461dup , LRG_766t1:c.14461dup	NP_000531.2:p.Val4821GlyfsTer?
NM_001042723.1:c.14446dup	NP_001036188.1:p.Val4816GlyfsTer?
XM_006723317.1:c.14443dup	XP_006723380.1:p.Val4815GlyfsTer?
XM_006723319.1:c.14428dup	XP_006723382.1:p.Val4810GlyfsTer?
XM_011527204.1:c.14458dup	XP_011525506.1:p.Val4820GlyfsTer?
XM_011527205.1:c.14374dup	XP_011525507.1:p.Val4792GlyfsTer?
XM_006723317.2:c.14443dup	XP_006723380.1:p.Val4815GlyfsTer?
XM_006723319.2:c.14428dup	XP_006723382.1:p.Val4810GlyfsTer?
XM_011527205.2:c.14374dup	XP_011525507.1:p.Val4792GlyfsTer?
NM_000540.3:c.14461dup MANE Select	NP_000531.2:p.Val4821GlyfsTer?
NM_001042723.2:c.14446dup	NP_001036188.1:p.Val4816GlyfsTer?