Canonical Allele Identifier: CA405690237

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075610G>A (hg19) ; chr19:g.38584970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584970G>A , CM000681.2:g.38584970G>A	GRCh38
NC_000019.9:g.39075610G>A , CM000681.1:g.39075610G>A	GRCh37
NC_000019.8:g.43767450G>A	NCBI36
NG_008866.1:g.156271G>A , LRG_766:g.156271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1610G>A
ENST00000688602.1:c.3007G>A
ENST00000689936.1:c.2979G>A
ENST00000692547.1:n.67G>A
ENST00000359596.8:c.14674G>A MANE Select	ENSP00000352608.2:p.Val4892Ile
ENST00000355481.8:c.14659G>A	ENSP00000347667.3:p.Val4887Ile
ENST00000359596.7:c.14674G>A	ENSP00000352608.2:p.Val4892Ile
ENST00000360985.7:c.14656G>A	ENSP00000354254.4:p.Val4886Ile
NM_000540.2:c.14674G>A , LRG_766t1:c.14674G>A	NP_000531.2:p.Val4892Ile
NM_001042723.1:c.14659G>A	NP_001036188.1:p.Val4887Ile
XM_006723317.1:c.14656G>A	XP_006723380.1:p.Val4886Ile
XM_006723319.1:c.14641G>A	XP_006723382.1:p.Val4881Ile
XM_011527204.1:c.14671G>A	XP_011525506.1:p.Val4891Ile
XM_011527205.1:c.14587G>A	XP_011525507.1:p.Val4863Ile
XM_006723317.2:c.14656G>A	XP_006723380.1:p.Val4886Ile
XM_006723319.2:c.14641G>A	XP_006723382.1:p.Val4881Ile
XM_011527205.2:c.14587G>A	XP_011525507.1:p.Val4863Ile
NM_000540.3:c.14674G>A MANE Select	NP_000531.2:p.Val4892Ile
NM_001042723.2:c.14659G>A	NP_001036188.1:p.Val4887Ile