Canonical Allele Identifier: CA10651894

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329130
• ClinVar RCV Id: RCV000299957 ; RCV000334873 ; RCV000357149 ; RCV000400738 ; RCV003591727
• dbSNP Id: rs886054410
• MyVariant Identifiers: chr19:g.39058449C>T (hg19) ; chr19:g.38567809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38567809C>T , CM000681.2:g.38567809C>T	GRCh38
NC_000019.9:g.39058449C>T , CM000681.1:g.39058449C>T	GRCh37
NC_000019.8:g.43750289C>T	NCBI36
NG_008866.1:g.139110C>T , LRG_766:g.139110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.487C>T
ENST00000688602.1:c.1884C>T
ENST00000689936.1:c.1943C>T
ENST00000359596.8:c.13551C>T MANE Select	ENSP00000352608.2:p.Pro4517=
ENST00000355481.8:c.13536C>T	ENSP00000347667.3:p.Pro4512=
ENST00000359596.7:c.13551C>T	ENSP00000352608.2:p.Pro4517=
ENST00000360985.7:c.13533C>T	ENSP00000354254.4:p.Pro4511=
ENST00000593677.1:c.98C>T
NM_000540.2:c.13551C>T , LRG_766t1:c.13551C>T	NP_000531.2:p.Pro4517=
NM_001042723.1:c.13536C>T	NP_001036188.1:p.Pro4512=
XM_006723317.1:c.13533C>T	XP_006723380.1:p.Pro4511=
XM_006723319.1:c.13518C>T	XP_006723382.1:p.Pro4506=
XM_011527204.1:c.13548C>T	XP_011525506.1:p.Pro4516=
XM_011527205.1:c.13551C>T	XP_011525507.1:p.Pro4517=
XM_006723317.2:c.13533C>T	XP_006723380.1:p.Pro4511=
XM_006723319.2:c.13518C>T	XP_006723382.1:p.Pro4506=
XM_011527205.2:c.13551C>T	XP_011525507.1:p.Pro4517=
NM_000540.3:c.13551C>T MANE Select	NP_000531.2:p.Pro4517=
NM_001042723.2:c.13536C>T	NP_001036188.1:p.Pro4512=