Canonical Allele Identifier: CA405687589

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071020C>T (hg19) ; chr19:g.38580380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580380C>T , CM000681.2:g.38580380C>T	GRCh38
NC_000019.9:g.39071020C>T , CM000681.1:g.39071020C>T	GRCh37
NC_000019.8:g.43762860C>T	NCBI36
NG_008866.1:g.151681C>T , LRG_766:g.151681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1458C>T
ENST00000688602.1:c.2855C>T
ENST00000689936.1:c.2827C>T
ENST00000359596.8:c.14522C>T MANE Select	ENSP00000352608.2:p.Thr4841Ile
ENST00000355481.8:c.14507C>T	ENSP00000347667.3:p.Thr4836Ile
ENST00000359596.7:c.14522C>T	ENSP00000352608.2:p.Thr4841Ile
ENST00000360985.7:c.14504C>T	ENSP00000354254.4:p.Thr4835Ile
NM_000540.2:c.14522C>T , LRG_766t1:c.14522C>T	NP_000531.2:p.Thr4841Ile
NM_001042723.1:c.14507C>T	NP_001036188.1:p.Thr4836Ile
XM_006723317.1:c.14504C>T	XP_006723380.1:p.Thr4835Ile
XM_006723319.1:c.14489C>T	XP_006723382.1:p.Thr4830Ile
XM_011527204.1:c.14519C>T	XP_011525506.1:p.Thr4840Ile
XM_011527205.1:c.14435C>T	XP_011525507.1:p.Thr4812Ile
XM_006723317.2:c.14504C>T	XP_006723380.1:p.Thr4835Ile
XM_006723319.2:c.14489C>T	XP_006723382.1:p.Thr4830Ile
XM_011527205.2:c.14435C>T	XP_011525507.1:p.Thr4812Ile
NM_000540.3:c.14522C>T MANE Select	NP_000531.2:p.Thr4841Ile
NM_001042723.2:c.14507C>T	NP_001036188.1:p.Thr4836Ile