Canonical Allele Identifier: CA2335095579

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586156_38586158delinsTCA , CM000681.2:g.38586156_38586158delinsTCA	GRCh38
NC_000019.9:g.39076796_39076798delinsTCA , CM000681.1:g.39076796_39076798delinsTCA	GRCh37
NC_000019.8:g.43768636_43768638delinsTCA	NCBI36
NG_008866.1:g.157457_157459delinsTCA , LRG_766:g.157457_157459delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1870_1872delinsTCA
ENST00000688602.1:c.3267_3269delinsTCA
ENST00000689936.1:c.3239_3241delinsTCA
ENST00000692547.1:n.327_329delinsTCA
ENST00000359596.8:c.14934_14936delinsTCA MANE Select	ENSP00000352608.2:p.Thr4978=
ENST00000355481.8:c.14919_14921delinsTCA	ENSP00000347667.3:p.Thr4973=
ENST00000359596.7:c.14934_14936delinsTCA	ENSP00000352608.2:p.Thr4978=
ENST00000360985.7:c.14916_14918delinsTCA	ENSP00000354254.4:p.Thr4972=
NM_000540.2:c.14934_14936delinsTCA , LRG_766t1:c.14934_14936delinsTCA	NP_000531.2:p.Thr4978=
NM_001042723.1:c.14919_14921delinsTCA	NP_001036188.1:p.Thr4973=
XM_006723317.1:c.14916_14918delinsTCA	XP_006723380.1:p.Thr4972=
XM_006723319.1:c.14901_14903delinsTCA	XP_006723382.1:p.Thr4967=
XM_011527204.1:c.14931_14933delinsTCA	XP_011525506.1:p.Thr4977=
XM_011527205.1:c.14847_14849delinsTCA	XP_011525507.1:p.Thr4949=
XM_006723317.2:c.14916_14918delinsTCA	XP_006723380.1:p.Thr4972=
XM_006723319.2:c.14901_14903delinsTCA	XP_006723382.1:p.Thr4967=
XM_011527205.2:c.14847_14849delinsTCA	XP_011525507.1:p.Thr4949=
NM_000540.3:c.14934_14936delinsTCA MANE Select	NP_000531.2:p.Thr4978=
NM_001042723.2:c.14919_14921delinsTCA	NP_001036188.1:p.Thr4973=