Canonical Allele Identifier: CA405687783

Gene: RYR1

Linked Data

• ClinVar Variation Id: 808572
• ClinVar RCV Id: RCV000996913
• dbSNP Id: rs1599665128
• MyVariant Identifiers: chr19:g.39071077T>C (hg19) ; chr19:g.38580437T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580437T>C , CM000681.2:g.38580437T>C	GRCh38
NC_000019.9:g.39071077T>C , CM000681.1:g.39071077T>C	GRCh37
NC_000019.8:g.43762917T>C	NCBI36
NG_008866.1:g.151738T>C , LRG_766:g.151738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1515T>C
ENST00000688602.1:c.2912T>C
ENST00000689936.1:c.2884T>C
ENST00000359596.8:c.14579T>C MANE Select	ENSP00000352608.2:p.Phe4860Ser
ENST00000355481.8:c.14564T>C	ENSP00000347667.3:p.Phe4855Ser
ENST00000359596.7:c.14579T>C	ENSP00000352608.2:p.Phe4860Ser
ENST00000360985.7:c.14561T>C	ENSP00000354254.4:p.Phe4854Ser
NM_000540.2:c.14579T>C , LRG_766t1:c.14579T>C	NP_000531.2:p.Phe4860Ser
NM_001042723.1:c.14564T>C	NP_001036188.1:p.Phe4855Ser
XM_006723317.1:c.14561T>C	XP_006723380.1:p.Phe4854Ser
XM_006723319.1:c.14546T>C	XP_006723382.1:p.Phe4849Ser
XM_011527204.1:c.14576T>C	XP_011525506.1:p.Phe4859Ser
XM_011527205.1:c.14492T>C	XP_011525507.1:p.Phe4831Ser
XM_006723317.2:c.14561T>C	XP_006723380.1:p.Phe4854Ser
XM_006723319.2:c.14546T>C	XP_006723382.1:p.Phe4849Ser
XM_011527205.2:c.14492T>C	XP_011525507.1:p.Phe4831Ser
NM_000540.3:c.14579T>C MANE Select	NP_000531.2:p.Phe4860Ser
NM_001042723.2:c.14564T>C	NP_001036188.1:p.Phe4855Ser