Canonical Allele Identifier: CA405661073

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1385982
• ClinVar RCV Id: RCV001889099
• dbSNP Id: rs2145774587
• COSMIC: COSM996062
• MyVariant Identifiers: chr19:g.39033991C>A (hg19) ; chr19:g.38543351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543351C>A , CM000681.2:g.38543351C>A	GRCh38
NC_000019.9:g.39033991C>A , CM000681.1:g.39033991C>A	GRCh37
NC_000019.8:g.43725831C>A	NCBI36
NG_008866.1:g.114652C>A , LRG_766:g.114652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.104C>A
ENST00000689936.1:c.86C>A
ENST00000359596.8:c.11694C>A MANE Select	ENSP00000352608.2:p.Phe3898Leu
ENST00000355481.8:c.11679C>A	ENSP00000347667.3:p.Phe3893Leu
ENST00000359596.7:c.11694C>A	ENSP00000352608.2:p.Phe3898Leu
ENST00000360985.7:c.11676C>A	ENSP00000354254.4:p.Phe3892Leu
ENST00000593322.1:c.303C>A
ENST00000594335.5:c.5063C>A
NM_000540.2:c.11694C>A , LRG_766t1:c.11694C>A	NP_000531.2:p.Phe3898Leu
NM_001042723.1:c.11679C>A	NP_001036188.1:p.Phe3893Leu
XM_006723317.1:c.11676C>A	XP_006723380.1:p.Phe3892Leu
XM_006723319.1:c.11661C>A	XP_006723382.1:p.Phe3887Leu
XM_011527204.1:c.11691C>A	XP_011525506.1:p.Phe3897Leu
XM_011527205.1:c.11694C>A	XP_011525507.1:p.Phe3898Leu
XM_006723317.2:c.11676C>A	XP_006723380.1:p.Phe3892Leu
XM_006723319.2:c.11661C>A	XP_006723382.1:p.Phe3887Leu
XM_011527205.2:c.11694C>A	XP_011525507.1:p.Phe3898Leu
NM_000540.3:c.11694C>A MANE Select	NP_000531.2:p.Phe3898Leu
NM_001042723.2:c.11679C>A	NP_001036188.1:p.Phe3893Leu