Canonical Allele Identifier: CA405678916

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38570671A>C , CM000681.2:g.38570671A>C	GRCh38
NC_000019.9:g.39061311A>C , CM000681.1:g.39061311A>C	GRCh37
NC_000019.8:g.43753151A>C	NCBI36
NG_008866.1:g.141972A>C , LRG_766:g.141972A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13724A>C MANE Select	NP_000531.2:p.Asn4575Thr
ENST00000359596.8:c.13724A>C MANE Select	ENSP00000352608.2:p.Asn4575Thr
NM_000540.2:c.13724A>C , LRG_766t1:c.13724A>C	NP_000531.2:p.Asn4575Thr
NM_001042723.1:c.13709A>C	NP_001036188.1:p.Asn4570Thr
NM_001042723.2:c.13709A>C	NP_001036188.1:p.Asn4570Thr
ENST00000355481.8:c.13709A>C	ENSP00000347667.3:p.Asn4570Thr
ENST00000359596.7:c.13724A>C	ENSP00000352608.2:p.Asn4575Thr
ENST00000360985.7:c.13706A>C	ENSP00000354254.4:p.Asn4569Thr
ENST00000593677.1:c.207-1348A>C
ENST00000593677.2:c.660A>C
ENST00000688602.1:c.2057A>C
ENST00000689936.1:c.2052-1348A>C
XM_006723317.1:c.13706A>C	XP_006723380.1:p.Asn4569Thr
XM_006723317.2:c.13706A>C	XP_006723380.1:p.Asn4569Thr
XM_006723319.1:c.13691A>C	XP_006723382.1:p.Asn4564Thr
XM_006723319.2:c.13691A>C	XP_006723382.1:p.Asn4564Thr
XM_011527204.1:c.13721A>C	XP_011525506.1:p.Asn4574Thr
XM_011527205.1:c.13660-1348A>C	XP_011525507.1:n.13660-1348A>C
XM_011527205.2:c.13660-1348A>C	XP_011525507.1:n.13660-1348A>C