Canonical Allele Identifier: CA405681972

Gene: RYR1

Linked Data

• dbSNP Id: rs1371742997
• gnomAD v2: 19-39063845-A-G
• gnomAD v4: 19-38573205-A-G
• MyVariant Identifiers: chr19:g.39063845A>G (hg19) ; chr19:g.38573205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573205A>G , CM000681.2:g.38573205A>G	GRCh38
NC_000019.9:g.39063845A>G , CM000681.1:g.39063845A>G	GRCh37
NC_000019.8:g.43755685A>G	NCBI36
NG_008866.1:g.144506A>G , LRG_766:g.144506A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.963A>G
ENST00000688602.1:c.2360A>G
ENST00000689936.1:c.2332A>G
ENST00000359596.8:c.14027A>G MANE Select	ENSP00000352608.2:p.Lys4676Arg
ENST00000355481.8:c.14012A>G	ENSP00000347667.3:p.Lys4671Arg
ENST00000359596.7:c.14027A>G	ENSP00000352608.2:p.Lys4676Arg
ENST00000360985.7:c.14009A>G	ENSP00000354254.4:p.Lys4670Arg
NM_000540.2:c.14027A>G , LRG_766t1:c.14027A>G	NP_000531.2:p.Lys4676Arg
NM_001042723.1:c.14012A>G	NP_001036188.1:p.Lys4671Arg
XM_006723317.1:c.14009A>G	XP_006723380.1:p.Lys4670Arg
XM_006723319.1:c.13994A>G	XP_006723382.1:p.Lys4665Arg
XM_011527204.1:c.14024A>G	XP_011525506.1:p.Lys4675Arg
XM_011527205.1:c.13940A>G	XP_011525507.1:p.Lys4647Arg
XM_006723317.2:c.14009A>G	XP_006723380.1:p.Lys4670Arg
XM_006723319.2:c.13994A>G	XP_006723382.1:p.Lys4665Arg
XM_011527205.2:c.13940A>G	XP_011525507.1:p.Lys4647Arg
NM_000540.3:c.14027A>G MANE Select	NP_000531.2:p.Lys4676Arg
NM_001042723.2:c.14012A>G	NP_001036188.1:p.Lys4671Arg