Canonical Allele Identifier: CA060675

Gene: RYR1

Linked Data

• dbSNP Id: rs761133686
• ExAC: 19:39062884 T / C
• gnomAD v2: 19-39062884-T-C
• gnomAD v3: 19-38572244-T-C
• gnomAD v4: 19-38572244-T-C
• MyVariant Identifiers: chr19:g.39062884T>C (hg19) ; chr19:g.38572244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572244T>C , CM000681.2:g.38572244T>C	GRCh38
NC_000019.9:g.39062884T>C , CM000681.1:g.39062884T>C	GRCh37
NC_000019.8:g.43754724T>C	NCBI36
NG_008866.1:g.143545T>C , LRG_766:g.143545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.908T>C
ENST00000688602.1:c.2305T>C
ENST00000689936.1:c.2277T>C
ENST00000359596.8:c.13972T>C MANE Select	ENSP00000352608.2:p.Cys4658Arg
ENST00000355481.8:c.13957T>C	ENSP00000347667.3:p.Cys4653Arg
ENST00000359596.7:c.13972T>C	ENSP00000352608.2:p.Cys4658Arg
ENST00000360985.7:c.13954T>C	ENSP00000354254.4:p.Cys4652Arg
ENST00000593677.1:c.432T>C
NM_000540.2:c.13972T>C , LRG_766t1:c.13972T>C	NP_000531.2:p.Cys4658Arg
NM_001042723.1:c.13957T>C	NP_001036188.1:p.Cys4653Arg
XM_006723317.1:c.13954T>C	XP_006723380.1:p.Cys4652Arg
XM_006723319.1:c.13939T>C	XP_006723382.1:p.Cys4647Arg
XM_011527204.1:c.13969T>C	XP_011525506.1:p.Cys4657Arg
XM_011527205.1:c.13885T>C	XP_011525507.1:p.Cys4629Arg
XM_006723317.2:c.13954T>C	XP_006723380.1:p.Cys4652Arg
XM_006723319.2:c.13939T>C	XP_006723382.1:p.Cys4647Arg
XM_011527205.2:c.13885T>C	XP_011525507.1:p.Cys4629Arg
NM_000540.3:c.13972T>C MANE Select	NP_000531.2:p.Cys4658Arg
NM_001042723.2:c.13957T>C	NP_001036188.1:p.Cys4653Arg