Canonical Allele Identifier: CA405681455

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062879T>A (hg19) ; chr19:g.38572239T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572239T>A , CM000681.2:g.38572239T>A	GRCh38
NC_000019.9:g.39062879T>A , CM000681.1:g.39062879T>A	GRCh37
NC_000019.8:g.43754719T>A	NCBI36
NG_008866.1:g.143540T>A , LRG_766:g.143540T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.903T>A
ENST00000688602.1:c.2300T>A
ENST00000689936.1:c.2272T>A
ENST00000359596.8:c.13967T>A MANE Select	ENSP00000352608.2:p.Phe4656Tyr
ENST00000355481.8:c.13952T>A	ENSP00000347667.3:p.Phe4651Tyr
ENST00000359596.7:c.13967T>A	ENSP00000352608.2:p.Phe4656Tyr
ENST00000360985.7:c.13949T>A	ENSP00000354254.4:p.Phe4650Tyr
ENST00000593677.1:c.427T>A
NM_000540.2:c.13967T>A , LRG_766t1:c.13967T>A	NP_000531.2:p.Phe4656Tyr
NM_001042723.1:c.13952T>A	NP_001036188.1:p.Phe4651Tyr
XM_006723317.1:c.13949T>A	XP_006723380.1:p.Phe4650Tyr
XM_006723319.1:c.13934T>A	XP_006723382.1:p.Phe4645Tyr
XM_011527204.1:c.13964T>A	XP_011525506.1:p.Phe4655Tyr
XM_011527205.1:c.13880T>A	XP_011525507.1:p.Phe4627Tyr
XM_006723317.2:c.13949T>A	XP_006723380.1:p.Phe4650Tyr
XM_006723319.2:c.13934T>A	XP_006723382.1:p.Phe4645Tyr
XM_011527205.2:c.13880T>A	XP_011525507.1:p.Phe4627Tyr
NM_000540.3:c.13967T>A MANE Select	NP_000531.2:p.Phe4656Tyr
NM_001042723.2:c.13952T>A	NP_001036188.1:p.Phe4651Tyr