Canonical Allele Identifier: CA507245164

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063888G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573248G>C , CM000681.2:g.38573248G>C	GRCh38
NC_000019.9:g.39063888G>C , CM000681.1:g.39063888G>C	GRCh37
NC_000019.8:g.43755728G>C	NCBI36
NG_008866.1:g.144549G>C , LRG_766:g.144549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1006G>C
ENST00000688602.1:c.2403G>C
ENST00000689936.1:c.2375G>C
ENST00000359596.8:c.14070G>C MANE Select	ENSP00000352608.2:p.Thr4690=
ENST00000355481.8:c.14055G>C	ENSP00000347667.3:p.Thr4685=
ENST00000359596.7:c.14070G>C	ENSP00000352608.2:p.Thr4690=
ENST00000360985.7:c.14052G>C	ENSP00000354254.4:p.Thr4684=
NM_000540.2:c.14070G>C , LRG_766t1:c.14070G>C	NP_000531.2:p.Thr4690=
NM_001042723.1:c.14055G>C	NP_001036188.1:p.Thr4685=
XM_006723317.1:c.14052G>C	XP_006723380.1:p.Thr4684=
XM_006723319.1:c.14037G>C	XP_006723382.1:p.Thr4679=
XM_011527204.1:c.14067G>C	XP_011525506.1:p.Thr4689=
XM_011527205.1:c.13983G>C	XP_011525507.1:p.Thr4661=
XM_006723317.2:c.14052G>C	XP_006723380.1:p.Thr4684=
XM_006723319.2:c.14037G>C	XP_006723382.1:p.Thr4679=
XM_011527205.2:c.13983G>C	XP_011525507.1:p.Thr4661=
NM_000540.3:c.14070G>C MANE Select	NP_000531.2:p.Thr4690=
NM_001042723.2:c.14055G>C	NP_001036188.1:p.Thr4685=