Canonical Allele Identifier: CA405693103

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076792A>T (hg19) ; chr19:g.38586152A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586152A>T , CM000681.2:g.38586152A>T	GRCh38
NC_000019.9:g.39076792A>T , CM000681.1:g.39076792A>T	GRCh37
NC_000019.8:g.43768632A>T	NCBI36
NG_008866.1:g.157453A>T , LRG_766:g.157453A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1866A>T
ENST00000688602.1:c.3263A>T
ENST00000689936.1:c.3235A>T
ENST00000692547.1:n.323A>T
ENST00000359596.8:c.14930A>T MANE Select	ENSP00000352608.2:p.Glu4977Val
ENST00000355481.8:c.14915A>T	ENSP00000347667.3:p.Glu4972Val
ENST00000359596.7:c.14930A>T	ENSP00000352608.2:p.Glu4977Val
ENST00000360985.7:c.14912A>T	ENSP00000354254.4:p.Glu4971Val
NM_000540.2:c.14930A>T , LRG_766t1:c.14930A>T	NP_000531.2:p.Glu4977Val
NM_001042723.1:c.14915A>T	NP_001036188.1:p.Glu4972Val
XM_006723317.1:c.14912A>T	XP_006723380.1:p.Glu4971Val
XM_006723319.1:c.14897A>T	XP_006723382.1:p.Glu4966Val
XM_011527204.1:c.14927A>T	XP_011525506.1:p.Glu4976Val
XM_011527205.1:c.14843A>T	XP_011525507.1:p.Glu4948Val
XM_006723317.2:c.14912A>T	XP_006723380.1:p.Glu4971Val
XM_006723319.2:c.14897A>T	XP_006723382.1:p.Glu4966Val
XM_011527205.2:c.14843A>T	XP_011525507.1:p.Glu4948Val
NM_000540.3:c.14930A>T MANE Select	NP_000531.2:p.Glu4977Val
NM_001042723.2:c.14915A>T	NP_001036188.1:p.Glu4972Val