Canonical Allele Identifier: CA060673

Gene: RYR1

Linked Data

• dbSNP Id: rs773643501
• ExAC: 19:39062881 C / G
• gnomAD v2: 19-39062881-C-G
• gnomAD v4: 19-38572241-C-G
• MyVariant Identifiers: chr19:g.39062881C>G (hg19) ; chr19:g.38572241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572241C>G , CM000681.2:g.38572241C>G	GRCh38
NC_000019.9:g.39062881C>G , CM000681.1:g.39062881C>G	GRCh37
NC_000019.8:g.43754721C>G	NCBI36
NG_008866.1:g.143542C>G , LRG_766:g.143542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.905C>G
ENST00000688602.1:c.2302C>G
ENST00000689936.1:c.2274C>G
ENST00000359596.8:c.13969C>G MANE Select	ENSP00000352608.2:p.Leu4657Val
ENST00000355481.8:c.13954C>G	ENSP00000347667.3:p.Leu4652Val
ENST00000359596.7:c.13969C>G	ENSP00000352608.2:p.Leu4657Val
ENST00000360985.7:c.13951C>G	ENSP00000354254.4:p.Leu4651Val
ENST00000593677.1:c.429C>G
NM_000540.2:c.13969C>G , LRG_766t1:c.13969C>G	NP_000531.2:p.Leu4657Val
NM_001042723.1:c.13954C>G	NP_001036188.1:p.Leu4652Val
XM_006723317.1:c.13951C>G	XP_006723380.1:p.Leu4651Val
XM_006723319.1:c.13936C>G	XP_006723382.1:p.Leu4646Val
XM_011527204.1:c.13966C>G	XP_011525506.1:p.Leu4656Val
XM_011527205.1:c.13882C>G	XP_011525507.1:p.Leu4628Val
XM_006723317.2:c.13951C>G	XP_006723380.1:p.Leu4651Val
XM_006723319.2:c.13936C>G	XP_006723382.1:p.Leu4646Val
XM_011527205.2:c.13882C>G	XP_011525507.1:p.Leu4628Val
NM_000540.3:c.13969C>G MANE Select	NP_000531.2:p.Leu4657Val
NM_001042723.2:c.13954C>G	NP_001036188.1:p.Leu4652Val