Canonical Allele Identifier: CA405686807

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435629
• ClinVar RCV Id: RCV003142716
• MyVariant Identifiers: chr19:g.39070629T>G (hg19) ; chr19:g.38579989T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579989T>G , CM000681.2:g.38579989T>G	GRCh38
NC_000019.9:g.39070629T>G , CM000681.1:g.39070629T>G	GRCh37
NC_000019.8:g.43762469T>G	NCBI36
NG_008866.1:g.151290T>G , LRG_766:g.151290T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1308T>G
ENST00000688602.1:c.2705T>G
ENST00000689936.1:c.2677T>G
ENST00000359596.8:c.14372T>G MANE Select	ENSP00000352608.2:p.Leu4791Arg
ENST00000355481.8:c.14357T>G	ENSP00000347667.3:p.Leu4786Arg
ENST00000359596.7:c.14372T>G	ENSP00000352608.2:p.Leu4791Arg
ENST00000360985.7:c.14354T>G	ENSP00000354254.4:p.Leu4785Arg
NM_000540.2:c.14372T>G , LRG_766t1:c.14372T>G	NP_000531.2:p.Leu4791Arg
NM_001042723.1:c.14357T>G	NP_001036188.1:p.Leu4786Arg
XM_006723317.1:c.14354T>G	XP_006723380.1:p.Leu4785Arg
XM_006723319.1:c.14339T>G	XP_006723382.1:p.Leu4780Arg
XM_011527204.1:c.14369T>G	XP_011525506.1:p.Leu4790Arg
XM_011527205.1:c.14285T>G	XP_011525507.1:p.Leu4762Arg
XM_006723317.2:c.14354T>G	XP_006723380.1:p.Leu4785Arg
XM_006723319.2:c.14339T>G	XP_006723382.1:p.Leu4780Arg
XM_011527205.2:c.14285T>G	XP_011525507.1:p.Leu4762Arg
NM_000540.3:c.14372T>G MANE Select	NP_000531.2:p.Leu4791Arg
NM_001042723.2:c.14357T>G	NP_001036188.1:p.Leu4786Arg