Canonical Allele Identifier: CA405649691

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2886350
• ClinVar RCV Id: RCV003758067
• MyVariant Identifiers: chr19:g.39019246G>C (hg19) ; chr19:g.38528606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528606G>C , CM000681.2:g.38528606G>C	GRCh38
NC_000019.9:g.39019246G>C , CM000681.1:g.39019246G>C	GRCh37
NC_000019.8:g.43711086G>C	NCBI36
NG_008866.1:g.99907G>C , LRG_766:g.99907G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10884G>C	ENSP00000471601.2:n.10884G>C
ENST00000359596.8:c.10945G>C MANE Select	ENSP00000352608.2:p.Ala3649Pro
ENST00000355481.8:c.10930G>C	ENSP00000347667.3:p.Ala3644Pro
ENST00000359596.7:c.10945G>C	ENSP00000352608.2:p.Ala3649Pro
ENST00000360985.7:c.10927G>C	ENSP00000354254.4:p.Ala3643Pro
ENST00000594335.5:c.4332G>C
ENST00000599547.5:c.1752G>C
ENST00000601514.5:c.226G>C	ENSP00000472497.1:p.Ala76Pro
NM_000540.2:c.10945G>C , LRG_766t1:c.10945G>C	NP_000531.2:p.Ala3649Pro
NM_001042723.1:c.10930G>C	NP_001036188.1:p.Ala3644Pro
XM_006723317.1:c.10945G>C	XP_006723380.1:p.Ala3649Pro
XM_006723319.1:c.10930G>C	XP_006723382.1:p.Ala3644Pro
XM_011527204.1:c.10942G>C	XP_011525506.1:p.Ala3648Pro
XM_011527205.1:c.10945G>C	XP_011525507.1:p.Ala3649Pro
XM_006723317.2:c.10945G>C	XP_006723380.1:p.Ala3649Pro
XM_006723319.2:c.10930G>C	XP_006723382.1:p.Ala3644Pro
XM_011527205.2:c.10945G>C	XP_011525507.1:p.Ala3649Pro
NM_000540.3:c.10945G>C MANE Select	NP_000531.2:p.Ala3649Pro
NM_001042723.2:c.10930G>C	NP_001036188.1:p.Ala3644Pro