Canonical Allele Identifier: CA882056237

Gene: RYR1

Linked Data

• dbSNP Id: rs1458790821
• MyVariant Identifiers: chr19:g.39076805_39076807del (hg19) ; chr19:g.38586165_38586167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586169_38586171del , CM000681.2:g.38586169_38586171del	GRCh38
NC_000019.9:g.39076809_39076811del , CM000681.1:g.39076809_39076811del	GRCh37
NC_000019.8:g.43768649_43768651del	NCBI36
NG_008866.1:g.157470_157472del , LRG_766:g.157470_157472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1883_1885del
ENST00000688602.1:c.3280_3282del
ENST00000689936.1:c.3252_3254del
ENST00000692547.1:n.340_342del
ENST00000359596.8:c.14947_14949del MANE Select	ENSP00000352608.2:p.Glu4983del
ENST00000355481.8:c.14932_14934del	ENSP00000347667.3:p.Glu4978del
ENST00000359596.7:c.14947_14949del	ENSP00000352608.2:p.Glu4983del
ENST00000360985.7:c.14929_14931del	ENSP00000354254.4:p.Glu4977del
NM_000540.2:c.14947_14949del , LRG_766t1:c.14947_14949del	NP_000531.2:p.Glu4983del
NM_001042723.1:c.14932_14934del	NP_001036188.1:p.Glu4978del
XM_006723317.1:c.14929_14931del	XP_006723380.1:p.Glu4977del
XM_006723319.1:c.14914_14916del	XP_006723382.1:p.Glu4972del
XM_011527204.1:c.14944_14946del	XP_011525506.1:p.Glu4982del
XM_011527205.1:c.14860_14862del	XP_011525507.1:p.Glu4954del
XM_006723317.2:c.14929_14931del	XP_006723380.1:p.Glu4977del
XM_006723319.2:c.14914_14916del	XP_006723382.1:p.Glu4972del
XM_011527205.2:c.14860_14862del	XP_011525507.1:p.Glu4954del
NM_000540.3:c.14947_14949del MANE Select	NP_000531.2:p.Glu4983del
NM_001042723.2:c.14932_14934del	NP_001036188.1:p.Glu4978del