Canonical Allele Identifier: CA995740343

Gene: RYR1

Linked Data

• dbSNP Id: rs1974129815

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1397del
ENST00000688602.1:c.2794del
ENST00000689936.1:c.2766del
ENST00000359596.8:c.14461del MANE Select	ENSP00000352608.2:p.Val4821SerfsTer19
ENST00000355481.8:c.14446del	ENSP00000347667.3:p.Val4816SerfsTer19
ENST00000359596.7:c.14461del	ENSP00000352608.2:p.Val4821SerfsTer19
ENST00000360985.7:c.14443del	ENSP00000354254.4:p.Val4815SerfsTer19
NM_000540.2:c.14461del , LRG_766t1:c.14461del	NP_000531.2:p.Val4821SerfsTer19
NM_001042723.1:c.14446del	NP_001036188.1:p.Val4816SerfsTer19
XM_006723317.1:c.14443del	XP_006723380.1:p.Val4815SerfsTer19
XM_006723319.1:c.14428del	XP_006723382.1:p.Val4810SerfsTer19
XM_011527204.1:c.14458del	XP_011525506.1:p.Val4820SerfsTer19
XM_011527205.1:c.14374del	XP_011525507.1:p.Val4792SerfsTer19
XM_006723317.2:c.14443del	XP_006723380.1:p.Val4815SerfsTer19
XM_006723319.2:c.14428del	XP_006723382.1:p.Val4810SerfsTer19
XM_011527205.2:c.14374del	XP_011525507.1:p.Val4792SerfsTer19
NM_000540.3:c.14461del MANE Select	NP_000531.2:p.Val4821SerfsTer19
NM_001042723.2:c.14446del	NP_001036188.1:p.Val4816SerfsTer19