Canonical Allele Identifier: CA2335088964

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573179G= , CM000681.2:g.38573179G=	GRCh38
NC_000019.9:g.39063819G= , CM000681.1:g.39063819G=	GRCh37
NC_000019.8:g.43755659G=	NCBI36
NG_008866.1:g.144480G= , LRG_766:g.144480G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.937G=
ENST00000688602.1:c.2334G=
ENST00000689936.1:c.2306G=
ENST00000359596.8:c.14001G= MANE Select	ENSP00000352608.2:p.Val4667=
ENST00000355481.8:c.13986G=	ENSP00000347667.3:p.Val4662=
ENST00000359596.7:c.14001G=	ENSP00000352608.2:p.Val4667=
ENST00000360985.7:c.13983G=	ENSP00000354254.4:p.Val4661=
NM_000540.2:c.14001G= , LRG_766t1:c.14001G=	NP_000531.2:p.Val4667=
NM_001042723.1:c.13986G=	NP_001036188.1:p.Val4662=
XM_006723317.1:c.13983G=	XP_006723380.1:p.Val4661=
XM_006723319.1:c.13968G=	XP_006723382.1:p.Val4656=
XM_011527204.1:c.13998G=	XP_011525506.1:p.Val4666=
XM_011527205.1:c.13914G=	XP_011525507.1:p.Val4638=
XM_006723317.2:c.13983G=	XP_006723380.1:p.Val4661=
XM_006723319.2:c.13968G=	XP_006723382.1:p.Val4656=
XM_011527205.2:c.13914G=	XP_011525507.1:p.Val4638=
NM_000540.3:c.14001G= MANE Select	NP_000531.2:p.Val4667=
NM_001042723.2:c.13986G=	NP_001036188.1:p.Val4662=