Canonical Allele Identifier: CA405682473

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063908A>T (hg19) ; chr19:g.38573268A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573268A>T , CM000681.2:g.38573268A>T	GRCh38
NC_000019.9:g.39063908A>T , CM000681.1:g.39063908A>T	GRCh37
NC_000019.8:g.43755748A>T	NCBI36
NG_008866.1:g.144569A>T , LRG_766:g.144569A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1026A>T
ENST00000688602.1:c.2423A>T
ENST00000689936.1:c.2395A>T
ENST00000359596.8:c.14090A>T MANE Select	ENSP00000352608.2:p.Asp4697Val
ENST00000355481.8:c.14075A>T	ENSP00000347667.3:p.Asp4692Val
ENST00000359596.7:c.14090A>T	ENSP00000352608.2:p.Asp4697Val
ENST00000360985.7:c.14072A>T	ENSP00000354254.4:p.Asp4691Val
NM_000540.2:c.14090A>T , LRG_766t1:c.14090A>T	NP_000531.2:p.Asp4697Val
NM_001042723.1:c.14075A>T	NP_001036188.1:p.Asp4692Val
XM_006723317.1:c.14072A>T	XP_006723380.1:p.Asp4691Val
XM_006723319.1:c.14057A>T	XP_006723382.1:p.Asp4686Val
XM_011527204.1:c.14087A>T	XP_011525506.1:p.Asp4696Val
XM_011527205.1:c.14003A>T	XP_011525507.1:p.Asp4668Val
XM_006723317.2:c.14072A>T	XP_006723380.1:p.Asp4691Val
XM_006723319.2:c.14057A>T	XP_006723382.1:p.Asp4686Val
XM_011527205.2:c.14003A>T	XP_011525507.1:p.Asp4668Val
NM_000540.3:c.14090A>T MANE Select	NP_000531.2:p.Asp4697Val
NM_001042723.2:c.14075A>T	NP_001036188.1:p.Asp4692Val