Canonical Allele Identifier: CA081048

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435582
• ClinVar RCV Id: RCV003130459
• dbSNP Id: rs1412023955
• gnomAD v4: 19-38573209-G-C
• MyVariant Identifiers: chr19:g.39063849G>C (hg19) ; chr19:g.38573209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573209G>C , CM000681.2:g.38573209G>C	GRCh38
NC_000019.9:g.39063849G>C , CM000681.1:g.39063849G>C	GRCh37
NC_000019.8:g.43755689G>C	NCBI36
NG_008866.1:g.144510G>C , LRG_766:g.144510G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.967G>C
ENST00000688602.1:c.2364G>C
ENST00000689936.1:c.2336G>C
ENST00000359596.8:c.14031G>C MANE Select	ENSP00000352608.2:p.Glu4677Asp
ENST00000355481.8:c.14016G>C	ENSP00000347667.3:p.Glu4672Asp
ENST00000359596.7:c.14031G>C	ENSP00000352608.2:p.Glu4677Asp
ENST00000360985.7:c.14013G>C	ENSP00000354254.4:p.Glu4671Asp
NM_000540.2:c.14031G>C , LRG_766t1:c.14031G>C	NP_000531.2:p.Glu4677Asp
NM_001042723.1:c.14016G>C	NP_001036188.1:p.Glu4672Asp
XM_006723317.1:c.14013G>C	XP_006723380.1:p.Glu4671Asp
XM_006723319.1:c.13998G>C	XP_006723382.1:p.Glu4666Asp
XM_011527204.1:c.14028G>C	XP_011525506.1:p.Glu4676Asp
XM_011527205.1:c.13944G>C	XP_011525507.1:p.Glu4648Asp
XM_006723317.2:c.14013G>C	XP_006723380.1:p.Glu4671Asp
XM_006723319.2:c.13998G>C	XP_006723382.1:p.Glu4666Asp
XM_011527205.2:c.13944G>C	XP_011525507.1:p.Glu4648Asp
NM_000540.3:c.14031G>C MANE Select	NP_000531.2:p.Glu4677Asp
NM_001042723.2:c.14016G>C	NP_001036188.1:p.Glu4672Asp