Canonical Allele Identifier: CA405682581

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063932T>G (hg19) ; chr19:g.38573292T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573292T>G , CM000681.2:g.38573292T>G	GRCh38
NC_000019.9:g.39063932T>G , CM000681.1:g.39063932T>G	GRCh37
NC_000019.8:g.43755772T>G	NCBI36
NG_008866.1:g.144593T>G , LRG_766:g.144593T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1050T>G
ENST00000688602.1:c.2447T>G
ENST00000689936.1:c.2419T>G
ENST00000359596.8:c.14114T>G MANE Select	ENSP00000352608.2:p.Leu4705Arg
ENST00000355481.8:c.14099T>G	ENSP00000347667.3:p.Leu4700Arg
ENST00000359596.7:c.14114T>G	ENSP00000352608.2:p.Leu4705Arg
ENST00000360985.7:c.14096T>G	ENSP00000354254.4:p.Leu4699Arg
NM_000540.2:c.14114T>G , LRG_766t1:c.14114T>G	NP_000531.2:p.Leu4705Arg
NM_001042723.1:c.14099T>G	NP_001036188.1:p.Leu4700Arg
XM_006723317.1:c.14096T>G	XP_006723380.1:p.Leu4699Arg
XM_006723319.1:c.14081T>G	XP_006723382.1:p.Leu4694Arg
XM_011527204.1:c.14111T>G	XP_011525506.1:p.Leu4704Arg
XM_011527205.1:c.14027T>G	XP_011525507.1:p.Leu4676Arg
XM_006723317.2:c.14096T>G	XP_006723380.1:p.Leu4699Arg
XM_006723319.2:c.14081T>G	XP_006723382.1:p.Leu4694Arg
XM_011527205.2:c.14027T>G	XP_011525507.1:p.Leu4676Arg
NM_000540.3:c.14114T>G MANE Select	NP_000531.2:p.Leu4705Arg
NM_001042723.2:c.14099T>G	NP_001036188.1:p.Leu4700Arg