Canonical Allele Identifier: CA405687078

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070685T>G (hg19) ; chr19:g.38580045T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580045T>G , CM000681.2:g.38580045T>G	GRCh38
NC_000019.9:g.39070685T>G , CM000681.1:g.39070685T>G	GRCh37
NC_000019.8:g.43762525T>G	NCBI36
NG_008866.1:g.151346T>G , LRG_766:g.151346T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1364T>G
ENST00000688602.1:c.2761T>G
ENST00000689936.1:c.2733T>G
ENST00000359596.8:c.14428T>G MANE Select	ENSP00000352608.2:p.Phe4810Val
ENST00000355481.8:c.14413T>G	ENSP00000347667.3:p.Phe4805Val
ENST00000359596.7:c.14428T>G	ENSP00000352608.2:p.Phe4810Val
ENST00000360985.7:c.14410T>G	ENSP00000354254.4:p.Phe4804Val
NM_000540.2:c.14428T>G , LRG_766t1:c.14428T>G	NP_000531.2:p.Phe4810Val
NM_001042723.1:c.14413T>G	NP_001036188.1:p.Phe4805Val
XM_006723317.1:c.14410T>G	XP_006723380.1:p.Phe4804Val
XM_006723319.1:c.14395T>G	XP_006723382.1:p.Phe4799Val
XM_011527204.1:c.14425T>G	XP_011525506.1:p.Phe4809Val
XM_011527205.1:c.14341T>G	XP_011525507.1:p.Phe4781Val
XM_006723317.2:c.14410T>G	XP_006723380.1:p.Phe4804Val
XM_006723319.2:c.14395T>G	XP_006723382.1:p.Phe4799Val
XM_011527205.2:c.14341T>G	XP_011525507.1:p.Phe4781Val
NM_000540.3:c.14428T>G MANE Select	NP_000531.2:p.Phe4810Val
NM_001042723.2:c.14413T>G	NP_001036188.1:p.Phe4805Val