Canonical Allele Identifier: CA405673420

Gene: RYR1

Linked Data

• ClinVar Variation Id: 892731
• ClinVar RCV Id: RCV001129235 ; RCV001129236 ; RCV001131927
• dbSNP Id: rs1973361809
• MyVariant Identifiers: chr19:g.39056065G>C (hg19) ; chr19:g.38565425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565425G>C , CM000681.2:g.38565425G>C	GRCh38
NC_000019.9:g.39056065G>C , CM000681.1:g.39056065G>C	GRCh37
NC_000019.8:g.43747905G>C	NCBI36
NG_008866.1:g.136726G>C , LRG_766:g.136726G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.27G>C
ENST00000688602.1:c.1501G>C
ENST00000689936.1:c.1483G>C
ENST00000359596.8:c.13091G>C MANE Select	ENSP00000352608.2:p.Gly4364Ala
ENST00000355481.8:c.13076G>C	ENSP00000347667.3:p.Gly4359Ala
ENST00000359596.7:c.13091G>C	ENSP00000352608.2:p.Gly4364Ala
ENST00000360985.7:c.13073G>C	ENSP00000354254.4:p.Gly4358Ala
NM_000540.2:c.13091G>C , LRG_766t1:c.13091G>C	NP_000531.2:p.Gly4364Ala
NM_001042723.1:c.13076G>C	NP_001036188.1:p.Gly4359Ala
XM_006723317.1:c.13073G>C	XP_006723380.1:p.Gly4358Ala
XM_006723319.1:c.13058G>C	XP_006723382.1:p.Gly4353Ala
XM_011527204.1:c.13088G>C	XP_011525506.1:p.Gly4363Ala
XM_011527205.1:c.13091G>C	XP_011525507.1:p.Gly4364Ala
XM_006723317.2:c.13073G>C	XP_006723380.1:p.Gly4358Ala
XM_006723319.2:c.13058G>C	XP_006723382.1:p.Gly4353Ala
XM_011527205.2:c.13091G>C	XP_011525507.1:p.Gly4364Ala
NM_000540.3:c.13091G>C MANE Select	NP_000531.2:p.Gly4364Ala
NM_001042723.2:c.13076G>C	NP_001036188.1:p.Gly4359Ala