Canonical Allele Identifier: CA405681172

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3070851
• ClinVar RCV Id: RCV004013361
• MyVariant Identifiers: chr19:g.39062840C>T (hg19) ; chr19:g.38572200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572200C>T , CM000681.2:g.38572200C>T	GRCh38
NC_000019.9:g.39062840C>T , CM000681.1:g.39062840C>T	GRCh37
NC_000019.8:g.43754680C>T	NCBI36
NG_008866.1:g.143501C>T , LRG_766:g.143501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.864C>T
ENST00000688602.1:c.2261C>T
ENST00000689936.1:c.2233C>T
ENST00000359596.8:c.13928C>T MANE Select	ENSP00000352608.2:p.Ala4643Val
ENST00000355481.8:c.13913C>T	ENSP00000347667.3:p.Ala4638Val
ENST00000359596.7:c.13928C>T	ENSP00000352608.2:p.Ala4643Val
ENST00000360985.7:c.13910C>T	ENSP00000354254.4:p.Ala4637Val
ENST00000593677.1:c.388C>T
NM_000540.2:c.13928C>T , LRG_766t1:c.13928C>T	NP_000531.2:p.Ala4643Val
NM_001042723.1:c.13913C>T	NP_001036188.1:p.Ala4638Val
XM_006723317.1:c.13910C>T	XP_006723380.1:p.Ala4637Val
XM_006723319.1:c.13895C>T	XP_006723382.1:p.Ala4632Val
XM_011527204.1:c.13925C>T	XP_011525506.1:p.Ala4642Val
XM_011527205.1:c.13841C>T	XP_011525507.1:p.Ala4614Val
XM_006723317.2:c.13910C>T	XP_006723380.1:p.Ala4637Val
XM_006723319.2:c.13895C>T	XP_006723382.1:p.Ala4632Val
XM_011527205.2:c.13841C>T	XP_011525507.1:p.Ala4614Val
NM_000540.3:c.13928C>T MANE Select	NP_000531.2:p.Ala4643Val
NM_001042723.2:c.13913C>T	NP_001036188.1:p.Ala4638Val