Canonical Allele Identifier: CA405687557

Gene: RYR1

Linked Data

• ClinVar Variation Id: 938658
• ClinVar RCV Id: RCV001207923
• dbSNP Id: rs1974145234
• MyVariant Identifiers: chr19:g.39071013G>C (hg19) ; chr19:g.38580373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580373G>C , CM000681.2:g.38580373G>C	GRCh38
NC_000019.9:g.39071013G>C , CM000681.1:g.39071013G>C	GRCh37
NC_000019.8:g.43762853G>C	NCBI36
NG_008866.1:g.151674G>C , LRG_766:g.151674G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1451G>C
ENST00000688602.1:c.2848G>C
ENST00000689936.1:c.2820G>C
ENST00000359596.8:c.14515G>C MANE Select	ENSP00000352608.2:p.Val4839Leu
ENST00000355481.8:c.14500G>C	ENSP00000347667.3:p.Val4834Leu
ENST00000359596.7:c.14515G>C	ENSP00000352608.2:p.Val4839Leu
ENST00000360985.7:c.14497G>C	ENSP00000354254.4:p.Val4833Leu
NM_000540.2:c.14515G>C , LRG_766t1:c.14515G>C	NP_000531.2:p.Val4839Leu
NM_001042723.1:c.14500G>C	NP_001036188.1:p.Val4834Leu
XM_006723317.1:c.14497G>C	XP_006723380.1:p.Val4833Leu
XM_006723319.1:c.14482G>C	XP_006723382.1:p.Val4828Leu
XM_011527204.1:c.14512G>C	XP_011525506.1:p.Val4838Leu
XM_011527205.1:c.14428G>C	XP_011525507.1:p.Val4810Leu
XM_006723317.2:c.14497G>C	XP_006723380.1:p.Val4833Leu
XM_006723319.2:c.14482G>C	XP_006723382.1:p.Val4828Leu
XM_011527205.2:c.14428G>C	XP_011525507.1:p.Val4810Leu
NM_000540.3:c.14515G>C MANE Select	NP_000531.2:p.Val4839Leu
NM_001042723.2:c.14500G>C	NP_001036188.1:p.Val4834Leu