Canonical Allele Identifier: CA2335088467

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572261T= , CM000681.2:g.38572261T=	GRCh38
NC_000019.9:g.39062901T= , CM000681.1:g.39062901T=	GRCh37
NC_000019.8:g.43754741T=	NCBI36
NG_008866.1:g.143562T= , LRG_766:g.143562T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.925T=
ENST00000688602.1:c.2322T=
ENST00000689936.1:c.2294T=
ENST00000359596.8:c.13989T= MANE Select	ENSP00000352608.2:p.Asn4663=
ENST00000355481.8:c.13974T=	ENSP00000347667.3:p.Asn4658=
ENST00000359596.7:c.13989T=	ENSP00000352608.2:p.Asn4663=
ENST00000360985.7:c.13971T=	ENSP00000354254.4:p.Asn4657=
NM_000540.2:c.13989T= , LRG_766t1:c.13989T=	NP_000531.2:p.Asn4663=
NM_001042723.1:c.13974T=	NP_001036188.1:p.Asn4658=
XM_006723317.1:c.13971T=	XP_006723380.1:p.Asn4657=
XM_006723319.1:c.13956T=	XP_006723382.1:p.Asn4652=
XM_011527204.1:c.13986T=	XP_011525506.1:p.Asn4662=
XM_011527205.1:c.13902T=	XP_011525507.1:p.Asn4634=
XM_006723317.2:c.13971T=	XP_006723380.1:p.Asn4657=
XM_006723319.2:c.13956T=	XP_006723382.1:p.Asn4652=
XM_011527205.2:c.13902T=	XP_011525507.1:p.Asn4634=
NM_000540.3:c.13989T= MANE Select	NP_000531.2:p.Asn4663=
NM_001042723.2:c.13974T=	NP_001036188.1:p.Asn4658=