Canonical Allele Identifier: CA405687045

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1498872
• ClinVar RCV Id: RCV002035647 ; RCV002283577
• dbSNP Id: rs1274780855
• MyVariant Identifiers: chr19:g.39070680T>A (hg19) ; chr19:g.38580040T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580040T>A , CM000681.2:g.38580040T>A	GRCh38
NC_000019.9:g.39070680T>A , CM000681.1:g.39070680T>A	GRCh37
NC_000019.8:g.43762520T>A	NCBI36
NG_008866.1:g.151341T>A , LRG_766:g.151341T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1359T>A
ENST00000688602.1:c.2756T>A
ENST00000689936.1:c.2728T>A
ENST00000359596.8:c.14423T>A MANE Select	ENSP00000352608.2:p.Phe4808Tyr
ENST00000355481.8:c.14408T>A	ENSP00000347667.3:p.Phe4803Tyr
ENST00000359596.7:c.14423T>A	ENSP00000352608.2:p.Phe4808Tyr
ENST00000360985.7:c.14405T>A	ENSP00000354254.4:p.Phe4802Tyr
NM_000540.2:c.14423T>A , LRG_766t1:c.14423T>A	NP_000531.2:p.Phe4808Tyr
NM_001042723.1:c.14408T>A	NP_001036188.1:p.Phe4803Tyr
XM_006723317.1:c.14405T>A	XP_006723380.1:p.Phe4802Tyr
XM_006723319.1:c.14390T>A	XP_006723382.1:p.Phe4797Tyr
XM_011527204.1:c.14420T>A	XP_011525506.1:p.Phe4807Tyr
XM_011527205.1:c.14336T>A	XP_011525507.1:p.Phe4779Tyr
XM_006723317.2:c.14405T>A	XP_006723380.1:p.Phe4802Tyr
XM_006723319.2:c.14390T>A	XP_006723382.1:p.Phe4797Tyr
XM_011527205.2:c.14336T>A	XP_011525507.1:p.Phe4779Tyr
NM_000540.3:c.14423T>A MANE Select	NP_000531.2:p.Phe4808Tyr
NM_001042723.2:c.14408T>A	NP_001036188.1:p.Phe4803Tyr