Canonical Allele Identifier: CA081012

Gene: RYR1

Linked Data

• dbSNP Id: rs746776856
• ExAC: 19:39062725 GGCTCTGGTGGCA / G
• gnomAD v2: 19-39062725-GGCTCTGGTGGCA-G
• gnomAD v4: 19-38572085-GGCTCTGGTGGCA-G
• MyVariant Identifiers: chr19:g.39062726_39062737del (hg19) ; chr19:g.38572086_38572097del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572093_38572104del , CM000681.2:g.38572093_38572104del	GRCh38
NC_000019.9:g.39062733_39062744del , CM000681.1:g.39062733_39062744del	GRCh37
NC_000019.8:g.43754573_43754584del	NCBI36
NG_008866.1:g.143394_143405del , LRG_766:g.143394_143405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.757_768del
ENST00000688602.1:c.2154_2165del
ENST00000689936.1:c.2126_2137del
ENST00000359596.8:c.13821_13832del MANE Select	ENSP00000352608.2:p.Gly4608_Gly4611del
ENST00000355481.8:c.13806_13817del	ENSP00000347667.3:p.Gly4603_Gly4606del
ENST00000359596.7:c.13821_13832del	ENSP00000352608.2:p.Gly4608_Gly4611del
ENST00000360985.7:c.13803_13814del	ENSP00000354254.4:p.Gly4602_Gly4605del
ENST00000593677.1:c.281_292del
NM_000540.2:c.13821_13832del , LRG_766t1:c.13821_13832del	NP_000531.2:p.Gly4608_Gly4611del
NM_001042723.1:c.13806_13817del	NP_001036188.1:p.Gly4603_Gly4606del
XM_006723317.1:c.13803_13814del	XP_006723380.1:p.Gly4602_Gly4605del
XM_006723319.1:c.13788_13799del	XP_006723382.1:p.Gly4597_Gly4600del
XM_011527204.1:c.13818_13829del	XP_011525506.1:p.Gly4607_Gly4610del
XM_011527205.1:c.13734_13745del	XP_011525507.1:p.Gly4579_Gly4582del
XM_006723317.2:c.13803_13814del	XP_006723380.1:p.Gly4602_Gly4605del
XM_006723319.2:c.13788_13799del	XP_006723382.1:p.Gly4597_Gly4600del
XM_011527205.2:c.13734_13745del	XP_011525507.1:p.Gly4579_Gly4582del
NM_000540.3:c.13821_13832del MANE Select	NP_000531.2:p.Gly4608_Gly4611del
NM_001042723.2:c.13806_13817del	NP_001036188.1:p.Gly4603_Gly4606del