Canonical Allele Identifier: CA507245135

Gene: RYR1

Linked Data

• COSMIC: COSM3707120
• MyVariant Identifiers: chr19:g.39063840G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573200G>T , CM000681.2:g.38573200G>T	GRCh38
NC_000019.9:g.39063840G>T , CM000681.1:g.39063840G>T	GRCh37
NC_000019.8:g.43755680G>T	NCBI36
NG_008866.1:g.144501G>T , LRG_766:g.144501G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.958G>T
ENST00000688602.1:c.2355G>T
ENST00000689936.1:c.2327G>T
ENST00000359596.8:c.14022G>T MANE Select	ENSP00000352608.2:p.Arg4674=
ENST00000355481.8:c.14007G>T	ENSP00000347667.3:p.Arg4669=
ENST00000359596.7:c.14022G>T	ENSP00000352608.2:p.Arg4674=
ENST00000360985.7:c.14004G>T	ENSP00000354254.4:p.Arg4668=
NM_000540.2:c.14022G>T , LRG_766t1:c.14022G>T	NP_000531.2:p.Arg4674=
NM_001042723.1:c.14007G>T	NP_001036188.1:p.Arg4669=
XM_006723317.1:c.14004G>T	XP_006723380.1:p.Arg4668=
XM_006723319.1:c.13989G>T	XP_006723382.1:p.Arg4663=
XM_011527204.1:c.14019G>T	XP_011525506.1:p.Arg4673=
XM_011527205.1:c.13935G>T	XP_011525507.1:p.Arg4645=
XM_006723317.2:c.14004G>T	XP_006723380.1:p.Arg4668=
XM_006723319.2:c.13989G>T	XP_006723382.1:p.Arg4663=
XM_011527205.2:c.13935G>T	XP_011525507.1:p.Arg4645=
NM_000540.3:c.14022G>T MANE Select	NP_000531.2:p.Arg4674=
NM_001042723.2:c.14007G>T	NP_001036188.1:p.Arg4669=