Canonical Allele Identifier: CA057483

Gene: RYR1

Linked Data

• dbSNP Id: rs766628670
• ExAC: 19:39033971 CTT / C
• MyVariant Identifiers: chr19:g.39033972_39033973del (hg19) ; chr19:g.38543332_38543333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543334_38543335del , CM000681.2:g.38543334_38543335del	GRCh38
NC_000019.9:g.39033974_39033975del , CM000681.1:g.39033974_39033975del	GRCh37
NC_000019.8:g.43725814_43725815del	NCBI36
NG_008866.1:g.114635_114636del , LRG_766:g.114635_114636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.100-13_100-12del
ENST00000689936.1:c.82-13_82-12del
ENST00000359596.8:c.11690-13_11690-12del MANE Select	ENSP00000352608.2:n.11690-13_11690-12del
ENST00000355481.8:c.11675-13_11675-12del	ENSP00000347667.3:n.11675-13_11675-12del
ENST00000359596.7:c.11690-13_11690-12del	ENSP00000352608.2:n.11690-13_11690-12del
ENST00000360985.7:c.11672-13_11672-12del	ENSP00000354254.4:n.11672-13_11672-12del
ENST00000593322.1:c.299-13_299-12del
ENST00000594335.5:c.5059-13_5059-12del
NM_000540.2:c.11690-13_11690-12del , LRG_766t1:c.11690-13_11690-12del	NP_000531.2:n.11690-13_11690-12del
NM_001042723.1:c.11675-13_11675-12del	NP_001036188.1:n.11675-13_11675-12del
XM_006723317.1:c.11672-13_11672-12del	XP_006723380.1:n.11672-13_11672-12del
XM_006723319.1:c.11657-13_11657-12del	XP_006723382.1:n.11657-13_11657-12del
XM_011527204.1:c.11687-13_11687-12del	XP_011525506.1:n.11687-13_11687-12del
XM_011527205.1:c.11690-13_11690-12del	XP_011525507.1:n.11690-13_11690-12del
XM_006723317.2:c.11672-13_11672-12del	XP_006723380.1:n.11672-13_11672-12del
XM_006723319.2:c.11657-13_11657-12del	XP_006723382.1:n.11657-13_11657-12del
XM_011527205.2:c.11690-13_11690-12del	XP_011525507.1:n.11690-13_11690-12del
NM_000540.3:c.11690-13_11690-12del MANE Select	NP_000531.2:n.11690-13_11690-12del
NM_001042723.2:c.11675-13_11675-12del	NP_001036188.1:n.11675-13_11675-12del