Canonical Allele Identifier: CA405687465

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590454
• ClinVar RCV Id: RCV000721375 ; RCV001580414
• dbSNP Id: rs1568604577
• MyVariant Identifiers: chr19:g.39070766C>G (hg19) ; chr19:g.38580126C>G (hg38)
• ERepo: CA405687465/MONDO:0018493/012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580126C>G , CM000681.2:g.38580126C>G	GRCh38
NC_000019.9:g.39070766C>G , CM000681.1:g.39070766C>G	GRCh37
NC_000019.8:g.43762606C>G	NCBI36
NG_008866.1:g.151427C>G , LRG_766:g.151427C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1445C>G
ENST00000688602.1:c.2842C>G
ENST00000689936.1:c.2814C>G
ENST00000359596.8:c.14509C>G MANE Select	ENSP00000352608.2:p.Gln4837Glu
ENST00000355481.8:c.14494C>G	ENSP00000347667.3:p.Gln4832Glu
ENST00000359596.7:c.14509C>G	ENSP00000352608.2:p.Gln4837Glu
ENST00000360985.7:c.14491C>G	ENSP00000354254.4:p.Gln4831Glu
NM_000540.2:c.14509C>G , LRG_766t1:c.14509C>G	NP_000531.2:p.Gln4837Glu
NM_001042723.1:c.14494C>G	NP_001036188.1:p.Gln4832Glu
XM_006723317.1:c.14491C>G	XP_006723380.1:p.Gln4831Glu
XM_006723319.1:c.14476C>G	XP_006723382.1:p.Gln4826Glu
XM_011527204.1:c.14506C>G	XP_011525506.1:p.Gln4836Glu
XM_011527205.1:c.14422C>G	XP_011525507.1:p.Gln4808Glu
XM_006723317.2:c.14491C>G	XP_006723380.1:p.Gln4831Glu
XM_006723319.2:c.14476C>G	XP_006723382.1:p.Gln4826Glu
XM_011527205.2:c.14422C>G	XP_011525507.1:p.Gln4808Glu
NM_000540.3:c.14509C>G MANE Select	NP_000531.2:p.Gln4837Glu
NM_001042723.2:c.14494C>G	NP_001036188.1:p.Gln4832Glu