Canonical Allele Identifier: CA405681342

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062867C>G (hg19) ; chr19:g.38572227C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572227C>G , CM000681.2:g.38572227C>G	GRCh38
NC_000019.9:g.39062867C>G , CM000681.1:g.39062867C>G	GRCh37
NC_000019.8:g.43754707C>G	NCBI36
NG_008866.1:g.143528C>G , LRG_766:g.143528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.891C>G
ENST00000688602.1:c.2288C>G
ENST00000689936.1:c.2260C>G
ENST00000359596.8:c.13955C>G MANE Select	ENSP00000352608.2:p.Thr4652Arg
ENST00000355481.8:c.13940C>G	ENSP00000347667.3:p.Thr4647Arg
ENST00000359596.7:c.13955C>G	ENSP00000352608.2:p.Thr4652Arg
ENST00000360985.7:c.13937C>G	ENSP00000354254.4:p.Thr4646Arg
ENST00000593677.1:c.415C>G
NM_000540.2:c.13955C>G , LRG_766t1:c.13955C>G	NP_000531.2:p.Thr4652Arg
NM_001042723.1:c.13940C>G	NP_001036188.1:p.Thr4647Arg
XM_006723317.1:c.13937C>G	XP_006723380.1:p.Thr4646Arg
XM_006723319.1:c.13922C>G	XP_006723382.1:p.Thr4641Arg
XM_011527204.1:c.13952C>G	XP_011525506.1:p.Thr4651Arg
XM_011527205.1:c.13868C>G	XP_011525507.1:p.Thr4623Arg
XM_006723317.2:c.13937C>G	XP_006723380.1:p.Thr4646Arg
XM_006723319.2:c.13922C>G	XP_006723382.1:p.Thr4641Arg
XM_011527205.2:c.13868C>G	XP_011525507.1:p.Thr4623Arg
NM_000540.3:c.13955C>G MANE Select	NP_000531.2:p.Thr4652Arg
NM_001042723.2:c.13940C>G	NP_001036188.1:p.Thr4647Arg