Canonical Allele Identifier: CA2335092472

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580430A= , CM000681.2:g.38580430A=	GRCh38
NC_000019.9:g.39071070A= , CM000681.1:g.39071070A=	GRCh37
NC_000019.8:g.43762910A=	NCBI36
NG_008866.1:g.151731A= , LRG_766:g.151731A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14572A= MANE Select	NP_000531.2:p.Asn4858=
ENST00000359596.8:c.14572A= MANE Select	ENSP00000352608.2:p.Asn4858=
NM_000540.2:c.14572A= , LRG_766t1:c.14572A=	NP_000531.2:p.Asn4858=
NM_001042723.1:c.14557A=	NP_001036188.1:p.Asn4853=
NM_001042723.2:c.14557A=	NP_001036188.1:p.Asn4853=
ENST00000355481.8:c.14557A=	ENSP00000347667.3:p.Asn4853=
ENST00000359596.7:c.14572A=	ENSP00000352608.2:p.Asn4858=
ENST00000360985.7:c.14554A=	ENSP00000354254.4:p.Asn4852=
ENST00000593677.2:c.1508A=
ENST00000688602.1:c.2905A=
ENST00000689936.1:c.2877A=
XM_006723317.1:c.14554A=	XP_006723380.1:p.Asn4852=
XM_006723317.2:c.14554A=	XP_006723380.1:p.Asn4852=
XM_006723319.1:c.14539A=	XP_006723382.1:p.Asn4847=
XM_006723319.2:c.14539A=	XP_006723382.1:p.Asn4847=
XM_011527204.1:c.14569A=	XP_011525506.1:p.Asn4857=
XM_011527205.1:c.14485A=	XP_011525507.1:p.Asn4829=
XM_011527205.2:c.14485A=	XP_011525507.1:p.Asn4829=