Canonical Allele Identifier: CA308125626

Gene: RYR1

Linked Data

• dbSNP Id: rs118192157
• MyVariant Identifiers: chr19:g.39075715_39075723del (hg19) ; chr19:g.38585075_38585083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585075_38585083del , CM000681.2:g.38585075_38585083del	GRCh38
NC_000019.9:g.39075715_39075723del , CM000681.1:g.39075715_39075723del	GRCh37
NC_000019.8:g.43767555_43767563del	NCBI36
NG_008866.1:g.156376_156384del , LRG_766:g.156376_156384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1715_1723del
ENST00000688602.1:c.3112_3120del
ENST00000689936.1:c.3084_3092del
ENST00000692547.1:n.172_180del
ENST00000359596.8:c.14779_14787del MANE Select	ENSP00000352608.2:p.Val4927_Leu4929del
ENST00000355481.8:c.14764_14772del	ENSP00000347667.3:p.Val4922_Leu4924del
ENST00000359596.7:c.14779_14787del	ENSP00000352608.2:p.Val4927_Leu4929del
ENST00000360985.7:c.14761_14769del	ENSP00000354254.4:p.Val4921_Leu4923del
NM_000540.2:c.14779_14787del , LRG_766t1:c.14779_14787del	NP_000531.2:p.Val4927_Leu4929del
NM_001042723.1:c.14764_14772del	NP_001036188.1:p.Val4922_Leu4924del
XM_006723317.1:c.14761_14769del	XP_006723380.1:p.Val4921_Leu4923del
XM_006723319.1:c.14746_14754del	XP_006723382.1:p.Val4916_Leu4918del
XM_011527204.1:c.14776_14784del	XP_011525506.1:p.Val4926_Leu4928del
XM_011527205.1:c.14692_14700del	XP_011525507.1:p.Val4898_Leu4900del
XM_006723317.2:c.14761_14769del	XP_006723380.1:p.Val4921_Leu4923del
XM_006723319.2:c.14746_14754del	XP_006723382.1:p.Val4916_Leu4918del
XM_011527205.2:c.14692_14700del	XP_011525507.1:p.Val4898_Leu4900del
NM_000540.3:c.14779_14787del MANE Select	NP_000531.2:p.Val4927_Leu4929del
NM_001042723.2:c.14764_14772del	NP_001036188.1:p.Val4922_Leu4924del