Canonical Allele Identifier: CA057505

Gene: RYR1

Linked Data

• dbSNP Id: rs753843671
• ExAC: 19:39033952 G / C
• gnomAD v2: 19-39033952-G-C
• gnomAD v4: 19-38543312-G-C
• MyVariant Identifiers: chr19:g.39033952G>C (hg19) ; chr19:g.38543312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543312G>C , CM000681.2:g.38543312G>C	GRCh38
NC_000019.9:g.39033952G>C , CM000681.1:g.39033952G>C	GRCh37
NC_000019.8:g.43725792G>C	NCBI36
NG_008866.1:g.114613G>C , LRG_766:g.114613G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.100-35G>C
ENST00000689936.1:c.82-35G>C
ENST00000359596.8:c.11690-35G>C MANE Select	ENSP00000352608.2:n.11690-35G>C
ENST00000355481.8:c.11675-35G>C	ENSP00000347667.3:n.11675-35G>C
ENST00000359596.7:c.11690-35G>C	ENSP00000352608.2:n.11690-35G>C
ENST00000360985.7:c.11672-35G>C	ENSP00000354254.4:n.11672-35G>C
ENST00000593322.1:c.299-35G>C
ENST00000594335.5:c.5059-35G>C
NM_000540.2:c.11690-35G>C , LRG_766t1:c.11690-35G>C	NP_000531.2:n.11690-35G>C
NM_001042723.1:c.11675-35G>C	NP_001036188.1:n.11675-35G>C
XM_006723317.1:c.11672-35G>C	XP_006723380.1:n.11672-35G>C
XM_006723319.1:c.11657-35G>C	XP_006723382.1:n.11657-35G>C
XM_011527204.1:c.11687-35G>C	XP_011525506.1:n.11687-35G>C
XM_011527205.1:c.11690-35G>C	XP_011525507.1:n.11690-35G>C
XM_006723317.2:c.11672-35G>C	XP_006723380.1:n.11672-35G>C
XM_006723319.2:c.11657-35G>C	XP_006723382.1:n.11657-35G>C
XM_011527205.2:c.11690-35G>C	XP_011525507.1:n.11690-35G>C
NM_000540.3:c.11690-35G>C MANE Select	NP_000531.2:n.11690-35G>C
NM_001042723.2:c.11675-35G>C	NP_001036188.1:n.11675-35G>C