Canonical Allele Identifier: CA405688183

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071145G>C (hg19) ; chr19:g.38580505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580505G>C , CM000681.2:g.38580505G>C	GRCh38
NC_000019.9:g.39071145G>C , CM000681.1:g.39071145G>C	GRCh37
NC_000019.8:g.43762985G>C	NCBI36
NG_008866.1:g.151806G>C , LRG_766:g.151806G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1582+1G>C
ENST00000688602.1:c.2979+1G>C
ENST00000689936.1:c.2951+1G>C
ENST00000359596.8:c.14646+1G>C MANE Select	ENSP00000352608.2:n.14646+1G>C
ENST00000355481.8:c.14631+1G>C	ENSP00000347667.3:n.14631+1G>C
ENST00000359596.7:c.14646+1G>C	ENSP00000352608.2:n.14646+1G>C
ENST00000360985.7:c.14628+1G>C	ENSP00000354254.4:n.14628+1G>C
NM_000540.2:c.14646+1G>C , LRG_766t1:c.14646+1G>C	NP_000531.2:n.14646+1G>C
NM_001042723.1:c.14631+1G>C	NP_001036188.1:n.14631+1G>C
XM_006723317.1:c.14628+1G>C	XP_006723380.1:n.14628+1G>C
XM_006723319.1:c.14613+1G>C	XP_006723382.1:n.14613+1G>C
XM_011527204.1:c.14643+1G>C	XP_011525506.1:n.14643+1G>C
XM_011527205.1:c.14559+1G>C	XP_011525507.1:n.14559+1G>C
XM_006723317.2:c.14628+1G>C	XP_006723380.1:n.14628+1G>C
XM_006723319.2:c.14613+1G>C	XP_006723382.1:n.14613+1G>C
XM_011527205.2:c.14559+1G>C	XP_011525507.1:n.14559+1G>C
NM_000540.3:c.14646+1G>C MANE Select	NP_000531.2:n.14646+1G>C
NM_001042723.2:c.14631+1G>C	NP_001036188.1:n.14631+1G>C