Canonical Allele Identifier: CA2957157477

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38535047T>C , CM000681.2:g.38535047T>C	GRCh38
NC_000019.9:g.39025687T>C , CM000681.1:g.39025687T>C	GRCh37
NC_000019.8:g.43717527T>C	NCBI36
NG_008866.1:g.106348T>C , LRG_766:g.106348T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.11360-94T>C MANE Select	NP_000531.2:n.11360-94T>C
ENST00000359596.8:c.11360-94T>C MANE Select	ENSP00000352608.2:n.11360-94T>C
NM_000540.2:c.11360-94T>C , LRG_766t1:c.11360-94T>C	NP_000531.2:n.11360-94T>C
NM_001042723.1:c.11345-94T>C	NP_001036188.1:n.11345-94T>C
NM_001042723.2:c.11345-94T>C	NP_001036188.1:n.11345-94T>C
ENST00000355481.8:c.11345-94T>C	ENSP00000347667.3:n.11345-94T>C
ENST00000359596.7:c.11360-94T>C	ENSP00000352608.2:n.11360-94T>C
ENST00000360985.7:c.11342-94T>C	ENSP00000354254.4:n.11342-94T>C
ENST00000593322.1:c.61-94T>C
ENST00000594335.5:c.4747-94T>C
ENST00000596431.5:c.89-94T>C	ENSP00000470848.1:n.89-94T>C
ENST00000599547.5:c.2167-94T>C
ENST00000599547.6:c.11299-94T>C	ENSP00000471601.2:n.11299-94T>C
ENST00000601514.5:c.641-94T>C	ENSP00000472497.1:n.641-94T>C
XM_006723317.1:c.11360-94T>C	XP_006723380.1:n.11360-94T>C
XM_006723317.2:c.11360-94T>C	XP_006723380.1:n.11360-94T>C
XM_006723319.1:c.11345-94T>C	XP_006723382.1:n.11345-94T>C
XM_006723319.2:c.11345-94T>C	XP_006723382.1:n.11345-94T>C
XM_011527204.1:c.11357-94T>C	XP_011525506.1:n.11357-94T>C
XM_011527205.1:c.11360-94T>C	XP_011525507.1:n.11360-94T>C
XM_011527205.2:c.11360-94T>C	XP_011525507.1:n.11360-94T>C