Canonical Allele Identifier: CA308123387

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510762G>C , CM000681.2:g.38510762G>C	GRCh38
NC_000019.9:g.39001402G>C , CM000681.1:g.39001402G>C	GRCh37
NC_000019.8:g.43693242G>C	NCBI36
NG_008866.1:g.82063G>C , LRG_766:g.82063G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.9103G>C MANE Select	NP_000531.2:p.Glu3035Gln
ENST00000359596.8:c.9103G>C MANE Select	ENSP00000352608.2:p.Glu3035Gln
NM_000540.2:c.9103G>C , LRG_766t1:c.9103G>C	NP_000531.2:p.Glu3035Gln
NM_001042723.1:c.9103G>C	NP_001036188.1:p.Glu3035Gln
NM_001042723.2:c.9103G>C	NP_001036188.1:p.Glu3035Gln
ENST00000355481.8:c.9103G>C	ENSP00000347667.3:p.Glu3035Gln
ENST00000359596.7:c.9103G>C	ENSP00000352608.2:p.Glu3035Gln
ENST00000360985.7:c.9100G>C	ENSP00000354254.4:p.Glu3034Gln
ENST00000594335.5:c.2555G>C
ENST00000599547.6:c.9103G>C	ENSP00000471601.2:p.Glu3035Gln
XM_006723317.1:c.9103G>C	XP_006723380.1:p.Glu3035Gln
XM_006723317.2:c.9103G>C	XP_006723380.1:p.Glu3035Gln
XM_006723319.1:c.9103G>C	XP_006723382.1:p.Glu3035Gln
XM_006723319.2:c.9103G>C	XP_006723382.1:p.Glu3035Gln
XM_011527204.1:c.9100G>C	XP_011525506.1:p.Glu3034Gln
XM_011527205.1:c.9103G>C	XP_011525507.1:p.Glu3035Gln
XM_011527205.2:c.9103G>C	XP_011525507.1:p.Glu3035Gln
XR_001753735.1:n.9186G>C