Canonical Allele Identifier: CA405692245

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076596T>A (hg19) ; chr19:g.38585956T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585956T>A , CM000681.2:g.38585956T>A	GRCh38
NC_000019.9:g.39076596T>A , CM000681.1:g.39076596T>A	GRCh37
NC_000019.8:g.43768436T>A	NCBI36
NG_008866.1:g.157257T>A , LRG_766:g.157257T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1758T>A
ENST00000688602.1:c.3155T>A
ENST00000689936.1:c.3127T>A
ENST00000692547.1:n.215T>A
ENST00000359596.8:c.14822T>A MANE Select	ENSP00000352608.2:p.Phe4941Tyr
ENST00000355481.8:c.14807T>A	ENSP00000347667.3:p.Phe4936Tyr
ENST00000359596.7:c.14822T>A	ENSP00000352608.2:p.Phe4941Tyr
ENST00000360985.7:c.14804T>A	ENSP00000354254.4:p.Phe4935Tyr
NM_000540.2:c.14822T>A , LRG_766t1:c.14822T>A	NP_000531.2:p.Phe4941Tyr
NM_001042723.1:c.14807T>A	NP_001036188.1:p.Phe4936Tyr
XM_006723317.1:c.14804T>A	XP_006723380.1:p.Phe4935Tyr
XM_006723319.1:c.14789T>A	XP_006723382.1:p.Phe4930Tyr
XM_011527204.1:c.14819T>A	XP_011525506.1:p.Phe4940Tyr
XM_011527205.1:c.14735T>A	XP_011525507.1:p.Phe4912Tyr
XM_006723317.2:c.14804T>A	XP_006723380.1:p.Phe4935Tyr
XM_006723319.2:c.14789T>A	XP_006723382.1:p.Phe4930Tyr
XM_011527205.2:c.14735T>A	XP_011525507.1:p.Phe4912Tyr
NM_000540.3:c.14822T>A MANE Select	NP_000531.2:p.Phe4941Tyr
NM_001042723.2:c.14807T>A	NP_001036188.1:p.Phe4936Tyr