Canonical Allele Identifier: CA658658816

Gene: RYR1

Linked Data

• ClinVar Variation Id: 451311
• ClinVar RCV Id: RCV000721399 ; RCV000792265
• dbSNP Id: rs1064794572
• MyVariant Identifiers: chr19:g.39075706_39075708dup (hg19) ; chr19:g.38585066_38585068dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585066_38585068dup , CM000681.2:g.38585066_38585068dup	GRCh38
NC_000019.9:g.39075706_39075708dup , CM000681.1:g.39075706_39075708dup	GRCh37
NC_000019.8:g.43767546_43767548dup	NCBI36
NG_008866.1:g.156367_156369dup , LRG_766:g.156367_156369dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1706_1708dup
ENST00000688602.1:c.3103_3105dup
ENST00000689936.1:c.3075_3077dup
ENST00000692547.1:n.163_165dup
ENST00000359596.8:c.14770_14772dup MANE Select	ENSP00000352608.2:p.Phe4924_Val4925insPhe...
ENST00000355481.8:c.14755_14757dup	ENSP00000347667.3:p.Phe4919_Val4920insPhe...
ENST00000359596.7:c.14770_14772dup	ENSP00000352608.2:p.Phe4924_Val4925insPhe...
ENST00000360985.7:c.14752_14754dup	ENSP00000354254.4:p.Phe4918_Val4919insPhe...
NM_000540.2:c.14770_14772dup , LRG_766t1:c.14770_14772dup	NP_000531.2:p.Phe4924_Val4925insPhe
NM_001042723.1:c.14755_14757dup	NP_001036188.1:p.Phe4919_Val4920insPhe
XM_006723317.1:c.14752_14754dup	XP_006723380.1:p.Phe4918_Val4919insPhe
XM_006723319.1:c.14737_14739dup	XP_006723382.1:p.Phe4913_Val4914insPhe
XM_011527204.1:c.14767_14769dup	XP_011525506.1:p.Phe4923_Val4924insPhe
XM_011527205.1:c.14683_14685dup	XP_011525507.1:p.Phe4895_Val4896insPhe
XM_006723317.2:c.14752_14754dup	XP_006723380.1:p.Phe4918_Val4919insPhe
XM_006723319.2:c.14737_14739dup	XP_006723382.1:p.Phe4913_Val4914insPhe
XM_011527205.2:c.14683_14685dup	XP_011525507.1:p.Phe4895_Val4896insPhe
NM_000540.3:c.14770_14772dup MANE Select	NP_000531.2:p.Phe4924_Val4925insPhe
NM_001042723.2:c.14755_14757dup	NP_001036188.1:p.Phe4919_Val4920insPhe