Canonical Allele Identifier: CA2814346615

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586078T>C , CM000681.2:g.38586078T>C	GRCh38
NC_000019.9:g.39076718T>C , CM000681.1:g.39076718T>C	GRCh37
NC_000019.8:g.43768558T>C	NCBI36
NG_008866.1:g.157379T>C , LRG_766:g.157379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1805-13T>C
ENST00000688602.1:c.3202-13T>C
ENST00000689936.1:c.3174-13T>C
ENST00000692547.1:n.262-13T>C
ENST00000359596.8:c.14869-13T>C MANE Select	ENSP00000352608.2:n.14869-13T>C
ENST00000355481.8:c.14854-13T>C	ENSP00000347667.3:n.14854-13T>C
ENST00000359596.7:c.14869-13T>C	ENSP00000352608.2:n.14869-13T>C
ENST00000360985.7:c.14851-13T>C	ENSP00000354254.4:n.14851-13T>C
NM_000540.2:c.14869-13T>C , LRG_766t1:c.14869-13T>C	NP_000531.2:n.14869-13T>C
NM_001042723.1:c.14854-13T>C	NP_001036188.1:n.14854-13T>C
XM_006723317.1:c.14851-13T>C	XP_006723380.1:n.14851-13T>C
XM_006723319.1:c.14836-13T>C	XP_006723382.1:n.14836-13T>C
XM_011527204.1:c.14866-13T>C	XP_011525506.1:n.14866-13T>C
XM_011527205.1:c.14782-13T>C	XP_011525507.1:n.14782-13T>C
XM_006723317.2:c.14851-13T>C	XP_006723380.1:n.14851-13T>C
XM_006723319.2:c.14836-13T>C	XP_006723382.1:n.14836-13T>C
XM_011527205.2:c.14782-13T>C	XP_011525507.1:n.14782-13T>C
NM_000540.3:c.14869-13T>C MANE Select	NP_000531.2:n.14869-13T>C
NM_001042723.2:c.14854-13T>C	NP_001036188.1:n.14854-13T>C