Canonical Allele Identifier: CA060767

Gene: RYR1

Linked Data

• dbSNP Id: rs774993310
• ExAC: 19:39063823 CT / C
• gnomAD v2: 19-39063823-CT-C
• MyVariant Identifiers: chr19:g.39063824del (hg19) ; chr19:g.38573184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573184del , CM000681.2:g.38573184del	GRCh38
NC_000019.9:g.39063824del , CM000681.1:g.39063824del	GRCh37
NC_000019.8:g.43755664del	NCBI36
NG_008866.1:g.144485del , LRG_766:g.144485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.942del
ENST00000688602.1:c.2339del
ENST00000689936.1:c.2311del
ENST00000359596.8:c.14006del MANE Select	ENSP00000352608.2:p.Leu4669ArgfsTer2
ENST00000355481.8:c.13991del	ENSP00000347667.3:p.Leu4664ArgfsTer2
ENST00000359596.7:c.14006del	ENSP00000352608.2:p.Leu4669ArgfsTer2
ENST00000360985.7:c.13988del	ENSP00000354254.4:p.Leu4663ArgfsTer2
NM_000540.2:c.14006del , LRG_766t1:c.14006del	NP_000531.2:p.Leu4669ArgfsTer2
NM_001042723.1:c.13991del	NP_001036188.1:p.Leu4664ArgfsTer2
XM_006723317.1:c.13988del	XP_006723380.1:p.Leu4663ArgfsTer2
XM_006723319.1:c.13973del	XP_006723382.1:p.Leu4658ArgfsTer2
XM_011527204.1:c.14003del	XP_011525506.1:p.Leu4668ArgfsTer2
XM_011527205.1:c.13919del	XP_011525507.1:p.Leu4640ArgfsTer2
XM_006723317.2:c.13988del	XP_006723380.1:p.Leu4663ArgfsTer2
XM_006723319.2:c.13973del	XP_006723382.1:p.Leu4658ArgfsTer2
XM_011527205.2:c.13919del	XP_011525507.1:p.Leu4640ArgfsTer2
NM_000540.3:c.14006del MANE Select	NP_000531.2:p.Leu4669ArgfsTer2
NM_001042723.2:c.13991del	NP_001036188.1:p.Leu4664ArgfsTer2