Canonical Allele Identifier: CA405687664

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1067955
• ClinVar RCV Id: RCV001379359
• dbSNP Id: rs2145896491
• MyVariant Identifiers: chr19:g.39071046T>C (hg19) ; chr19:g.38580406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580406T>C , CM000681.2:g.38580406T>C	GRCh38
NC_000019.9:g.39071046T>C , CM000681.1:g.39071046T>C	GRCh37
NC_000019.8:g.43762886T>C	NCBI36
NG_008866.1:g.151707T>C , LRG_766:g.151707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1484T>C
ENST00000688602.1:c.2881T>C
ENST00000689936.1:c.2853T>C
ENST00000359596.8:c.14548T>C MANE Select	ENSP00000352608.2:p.Tyr4850His
ENST00000355481.8:c.14533T>C	ENSP00000347667.3:p.Tyr4845His
ENST00000359596.7:c.14548T>C	ENSP00000352608.2:p.Tyr4850His
ENST00000360985.7:c.14530T>C	ENSP00000354254.4:p.Tyr4844His
NM_000540.2:c.14548T>C , LRG_766t1:c.14548T>C	NP_000531.2:p.Tyr4850His
NM_001042723.1:c.14533T>C	NP_001036188.1:p.Tyr4845His
XM_006723317.1:c.14530T>C	XP_006723380.1:p.Tyr4844His
XM_006723319.1:c.14515T>C	XP_006723382.1:p.Tyr4839His
XM_011527204.1:c.14545T>C	XP_011525506.1:p.Tyr4849His
XM_011527205.1:c.14461T>C	XP_011525507.1:p.Tyr4821His
XM_006723317.2:c.14530T>C	XP_006723380.1:p.Tyr4844His
XM_006723319.2:c.14515T>C	XP_006723382.1:p.Tyr4839His
XM_011527205.2:c.14461T>C	XP_011525507.1:p.Tyr4821His
NM_000540.3:c.14548T>C MANE Select	NP_000531.2:p.Tyr4850His
NM_001042723.2:c.14533T>C	NP_001036188.1:p.Tyr4845His