Canonical Allele Identifier: CA507354760

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034060C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543420C>T , CM000681.2:g.38543420C>T	GRCh38
NC_000019.9:g.39034060C>T , CM000681.1:g.39034060C>T	GRCh37
NC_000019.8:g.43725900C>T	NCBI36
NG_008866.1:g.114721C>T , LRG_766:g.114721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.173C>T
ENST00000689936.1:c.155C>T
ENST00000359596.8:c.11763C>T MANE Select	ENSP00000352608.2:p.Tyr3921=
ENST00000355481.8:c.11748C>T	ENSP00000347667.3:p.Tyr3916=
ENST00000359596.7:c.11763C>T	ENSP00000352608.2:p.Tyr3921=
ENST00000360985.7:c.11745C>T	ENSP00000354254.4:p.Tyr3915=
ENST00000593322.1:c.372C>T
ENST00000594335.5:c.5132C>T
NM_000540.2:c.11763C>T , LRG_766t1:c.11763C>T	NP_000531.2:p.Tyr3921=
NM_001042723.1:c.11748C>T	NP_001036188.1:p.Tyr3916=
XM_006723317.1:c.11745C>T	XP_006723380.1:p.Tyr3915=
XM_006723319.1:c.11730C>T	XP_006723382.1:p.Tyr3910=
XM_011527204.1:c.11760C>T	XP_011525506.1:p.Tyr3920=
XM_011527205.1:c.11763C>T	XP_011525507.1:p.Tyr3921=
XM_006723317.2:c.11745C>T	XP_006723380.1:p.Tyr3915=
XM_006723319.2:c.11730C>T	XP_006723382.1:p.Tyr3910=
XM_011527205.2:c.11763C>T	XP_011525507.1:p.Tyr3921=
NM_000540.3:c.11763C>T MANE Select	NP_000531.2:p.Tyr3921=
NM_001042723.2:c.11748C>T	NP_001036188.1:p.Tyr3916=