Canonical Allele Identifier: CA405681193

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1495160
• ClinVar RCV Id: RCV001999163
• dbSNP Id: rs193922860
• MyVariant Identifiers: chr19:g.39062846G>C (hg19) ; chr19:g.38572206G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572206G>C , CM000681.2:g.38572206G>C	GRCh38
NC_000019.9:g.39062846G>C , CM000681.1:g.39062846G>C	GRCh37
NC_000019.8:g.43754686G>C	NCBI36
NG_008866.1:g.143507G>C , LRG_766:g.143507G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.870G>C
ENST00000688602.1:c.2267G>C
ENST00000689936.1:c.2239G>C
ENST00000359596.8:c.13934G>C MANE Select	ENSP00000352608.2:p.Arg4645Pro
ENST00000355481.8:c.13919G>C	ENSP00000347667.3:p.Arg4640Pro
ENST00000359596.7:c.13934G>C	ENSP00000352608.2:p.Arg4645Pro
ENST00000360985.7:c.13916G>C	ENSP00000354254.4:p.Arg4639Pro
ENST00000593677.1:c.394G>C
NM_000540.2:c.13934G>C , LRG_766t1:c.13934G>C	NP_000531.2:p.Arg4645Pro
NM_001042723.1:c.13919G>C	NP_001036188.1:p.Arg4640Pro
XM_006723317.1:c.13916G>C	XP_006723380.1:p.Arg4639Pro
XM_006723319.1:c.13901G>C	XP_006723382.1:p.Arg4634Pro
XM_011527204.1:c.13931G>C	XP_011525506.1:p.Arg4644Pro
XM_011527205.1:c.13847G>C	XP_011525507.1:p.Arg4616Pro
XM_006723317.2:c.13916G>C	XP_006723380.1:p.Arg4639Pro
XM_006723319.2:c.13901G>C	XP_006723382.1:p.Arg4634Pro
XM_011527205.2:c.13847G>C	XP_011525507.1:p.Arg4616Pro
NM_000540.3:c.13934G>C MANE Select	NP_000531.2:p.Arg4645Pro
NM_001042723.2:c.13919G>C	NP_001036188.1:p.Arg4640Pro