Canonical Allele Identifier: CA405661092

Gene: RYR1

Linked Data

• ClinVar Variation Id: 642910
• ClinVar RCV Id: RCV000796463
• dbSNP Id: rs1555794184
• MyVariant Identifiers: chr19:g.39033994G>C (hg19) ; chr19:g.38543354G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543354G>C , CM000681.2:g.38543354G>C	GRCh38
NC_000019.9:g.39033994G>C , CM000681.1:g.39033994G>C	GRCh37
NC_000019.8:g.43725834G>C	NCBI36
NG_008866.1:g.114655G>C , LRG_766:g.114655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.107G>C
ENST00000689936.1:c.89G>C
ENST00000359596.8:c.11697G>C MANE Select	ENSP00000352608.2:p.Gln3899His
ENST00000355481.8:c.11682G>C	ENSP00000347667.3:p.Gln3894His
ENST00000359596.7:c.11697G>C	ENSP00000352608.2:p.Gln3899His
ENST00000360985.7:c.11679G>C	ENSP00000354254.4:p.Gln3893His
ENST00000593322.1:c.306G>C
ENST00000594335.5:c.5066G>C
NM_000540.2:c.11697G>C , LRG_766t1:c.11697G>C	NP_000531.2:p.Gln3899His
NM_001042723.1:c.11682G>C	NP_001036188.1:p.Gln3894His
XM_006723317.1:c.11679G>C	XP_006723380.1:p.Gln3893His
XM_006723319.1:c.11664G>C	XP_006723382.1:p.Gln3888His
XM_011527204.1:c.11694G>C	XP_011525506.1:p.Gln3898His
XM_011527205.1:c.11697G>C	XP_011525507.1:p.Gln3899His
XM_006723317.2:c.11679G>C	XP_006723380.1:p.Gln3893His
XM_006723319.2:c.11664G>C	XP_006723382.1:p.Gln3888His
XM_011527205.2:c.11697G>C	XP_011525507.1:p.Gln3899His
NM_000540.3:c.11697G>C MANE Select	NP_000531.2:p.Gln3899His
NM_001042723.2:c.11682G>C	NP_001036188.1:p.Gln3894His