Canonical Allele Identifier: CA405656364

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39026637C>G (hg19) ; chr19:g.38535997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38535997C>G , CM000681.2:g.38535997C>G	GRCh38
NC_000019.9:g.39026637C>G , CM000681.1:g.39026637C>G	GRCh37
NC_000019.8:g.43718477C>G	NCBI36
NG_008866.1:g.107298C>G , LRG_766:g.107298C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000359596.8:c.11517C>G MANE Select	ENSP00000352608.2:p.Ser3839Arg
ENST00000355481.8:c.11502C>G	ENSP00000347667.3:p.Ser3834Arg
ENST00000359596.7:c.11517C>G	ENSP00000352608.2:p.Ser3839Arg
ENST00000360985.7:c.11499C>G	ENSP00000354254.4:p.Ser3833Arg
ENST00000593322.1:c.217+605C>G
ENST00000594335.5:c.4904C>G
ENST00000596431.5:c.246C>G	ENSP00000470848.1:p.Ser82Arg
ENST00000601514.5:c.798C>G	ENSP00000472497.1:p.Ser266Arg
NM_000540.2:c.11517C>G , LRG_766t1:c.11517C>G	NP_000531.2:p.Ser3839Arg
NM_001042723.1:c.11502C>G	NP_001036188.1:p.Ser3834Arg
XM_006723317.1:c.11517C>G	XP_006723380.1:p.Ser3839Arg
XM_006723319.1:c.11502C>G	XP_006723382.1:p.Ser3834Arg
XM_011527204.1:c.11514C>G	XP_011525506.1:p.Ser3838Arg
XM_011527205.1:c.11517C>G	XP_011525507.1:p.Ser3839Arg
XM_006723317.2:c.11517C>G	XP_006723380.1:p.Ser3839Arg
XM_006723319.2:c.11502C>G	XP_006723382.1:p.Ser3834Arg
XM_011527205.2:c.11517C>G	XP_011525507.1:p.Ser3839Arg
NM_000540.3:c.11517C>G MANE Select	NP_000531.2:p.Ser3839Arg
NM_001042723.2:c.11502C>G	NP_001036188.1:p.Ser3834Arg