Canonical Allele Identifier: CA2736031056

Gene: RYR1

Linked Data

• dbSNP Id: rs2145775465

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543553del , CM000681.2:g.38543553del	GRCh38
NC_000019.9:g.39034193del , CM000681.1:g.39034193del	GRCh37
NC_000019.8:g.43726033del	NCBI36
NG_008866.1:g.114854del , LRG_766:g.114854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.210del
ENST00000689936.1:c.192del
ENST00000359596.8:c.11800del MANE Select	ENSP00000352608.2:p.Trp3934GlyfsTer?
ENST00000355481.8:c.11785del	ENSP00000347667.3:p.Trp3929GlyfsTer?
ENST00000359596.7:c.11800del	ENSP00000352608.2:p.Trp3934GlyfsTer?
ENST00000360985.7:c.11782del	ENSP00000354254.4:p.Trp3928GlyfsTer?
ENST00000593322.1:c.409del
ENST00000594335.5:c.5169del
NM_000540.2:c.11800del , LRG_766t1:c.11800del	NP_000531.2:p.Trp3934GlyfsTer?
NM_001042723.1:c.11785del	NP_001036188.1:p.Trp3929GlyfsTer?
XM_006723317.1:c.11782del	XP_006723380.1:p.Trp3928GlyfsTer?
XM_006723319.1:c.11767del	XP_006723382.1:p.Trp3923GlyfsTer?
XM_011527204.1:c.11797del	XP_011525506.1:p.Trp3933GlyfsTer?
XM_011527205.1:c.11800del	XP_011525507.1:p.Trp3934GlyfsTer?
XM_006723317.2:c.11782del	XP_006723380.1:p.Trp3928GlyfsTer?
XM_006723319.2:c.11767del	XP_006723382.1:p.Trp3923GlyfsTer?
XM_011527205.2:c.11800del	XP_011525507.1:p.Trp3934GlyfsTer?
NM_000540.3:c.11800del MANE Select	NP_000531.2:p.Trp3934GlyfsTer?
NM_001042723.2:c.11785del	NP_001036188.1:p.Trp3929GlyfsTer?