Canonical Allele Identifier: CA405687804

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1066439
• ClinVar RCV Id: RCV001377444
• dbSNP Id: rs63749869
• MyVariant Identifiers: chr19:g.39071080G>C (hg19) ; chr19:g.38580440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580440G>C , CM000681.2:g.38580440G>C	GRCh38
NC_000019.9:g.39071080G>C , CM000681.1:g.39071080G>C	GRCh37
NC_000019.8:g.43762920G>C	NCBI36
NG_008866.1:g.151741G>C , LRG_766:g.151741G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1518G>C
ENST00000688602.1:c.2915G>C
ENST00000689936.1:c.2887G>C
ENST00000359596.8:c.14582G>C MANE Select	ENSP00000352608.2:p.Arg4861Pro
ENST00000355481.8:c.14567G>C	ENSP00000347667.3:p.Arg4856Pro
ENST00000359596.7:c.14582G>C	ENSP00000352608.2:p.Arg4861Pro
ENST00000360985.7:c.14564G>C	ENSP00000354254.4:p.Arg4855Pro
NM_000540.2:c.14582G>C , LRG_766t1:c.14582G>C	NP_000531.2:p.Arg4861Pro
NM_001042723.1:c.14567G>C	NP_001036188.1:p.Arg4856Pro
XM_006723317.1:c.14564G>C	XP_006723380.1:p.Arg4855Pro
XM_006723319.1:c.14549G>C	XP_006723382.1:p.Arg4850Pro
XM_011527204.1:c.14579G>C	XP_011525506.1:p.Arg4860Pro
XM_011527205.1:c.14495G>C	XP_011525507.1:p.Arg4832Pro
XM_006723317.2:c.14564G>C	XP_006723380.1:p.Arg4855Pro
XM_006723319.2:c.14549G>C	XP_006723382.1:p.Arg4850Pro
XM_011527205.2:c.14495G>C	XP_011525507.1:p.Arg4832Pro
NM_000540.3:c.14582G>C MANE Select	NP_000531.2:p.Arg4861Pro
NM_001042723.2:c.14567G>C	NP_001036188.1:p.Arg4856Pro