Canonical Allele Identifier: CA024251

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65939
• ClinVar RCV Id: RCV000056186 ; RCV000119560 ; RCV001854161
• dbSNP Id: rs118192156
• MyVariant Identifiers: chr19:g.39075698T>C (hg19) ; chr19:g.38585058T>C (hg38)
• PubMed: PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585058T>C , CM000681.2:g.38585058T>C	GRCh38
NC_000019.9:g.39075698T>C , CM000681.1:g.39075698T>C	GRCh37
NC_000019.8:g.43767538T>C	NCBI36
NG_008866.1:g.156359T>C , LRG_766:g.156359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1698T>C
ENST00000688602.1:c.3095T>C
ENST00000689936.1:c.3067T>C
ENST00000692547.1:n.155T>C
ENST00000359596.8:c.14762T>C MANE Select	ENSP00000352608.2:p.Phe4921Ser
ENST00000355481.8:c.14747T>C	ENSP00000347667.3:p.Phe4916Ser
ENST00000359596.7:c.14762T>C	ENSP00000352608.2:p.Phe4921Ser
ENST00000360985.7:c.14744T>C	ENSP00000354254.4:p.Phe4915Ser
NM_000540.2:c.14762T>C , LRG_766t1:c.14762T>C	NP_000531.2:p.Phe4921Ser
NM_001042723.1:c.14747T>C	NP_001036188.1:p.Phe4916Ser
XM_006723317.1:c.14744T>C	XP_006723380.1:p.Phe4915Ser
XM_006723319.1:c.14729T>C	XP_006723382.1:p.Phe4910Ser
XM_011527204.1:c.14759T>C	XP_011525506.1:p.Phe4920Ser
XM_011527205.1:c.14675T>C	XP_011525507.1:p.Phe4892Ser
XM_006723317.2:c.14744T>C	XP_006723380.1:p.Phe4915Ser
XM_006723319.2:c.14729T>C	XP_006723382.1:p.Phe4910Ser
XM_011527205.2:c.14675T>C	XP_011525507.1:p.Phe4892Ser
NM_000540.3:c.14762T>C MANE Select	NP_000531.2:p.Phe4921Ser
NM_001042723.2:c.14747T>C	NP_001036188.1:p.Phe4916Ser