Canonical Allele Identifier: CA2335092253

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580002G= , CM000681.2:g.38580002G=	GRCh38
NC_000019.9:g.39070642G= , CM000681.1:g.39070642G=	GRCh37
NC_000019.8:g.43762482G=	NCBI36
NG_008866.1:g.151303G= , LRG_766:g.151303G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1321G=
ENST00000688602.1:c.2718G=
ENST00000689936.1:c.2690G=
ENST00000359596.8:c.14385G= MANE Select	ENSP00000352608.2:p.Trp4795=
ENST00000355481.8:c.14370G=	ENSP00000347667.3:p.Trp4790=
ENST00000359596.7:c.14385G=	ENSP00000352608.2:p.Trp4795=
ENST00000360985.7:c.14367G=	ENSP00000354254.4:p.Trp4789=
NM_000540.2:c.14385G= , LRG_766t1:c.14385G=	NP_000531.2:p.Trp4795=
NM_001042723.1:c.14370G=	NP_001036188.1:p.Trp4790=
XM_006723317.1:c.14367G=	XP_006723380.1:p.Trp4789=
XM_006723319.1:c.14352G=	XP_006723382.1:p.Trp4784=
XM_011527204.1:c.14382G=	XP_011525506.1:p.Trp4794=
XM_011527205.1:c.14298G=	XP_011525507.1:p.Trp4766=
XM_006723317.2:c.14367G=	XP_006723380.1:p.Trp4789=
XM_006723319.2:c.14352G=	XP_006723382.1:p.Trp4784=
XM_011527205.2:c.14298G=	XP_011525507.1:p.Trp4766=
NM_000540.3:c.14385G= MANE Select	NP_000531.2:p.Trp4795=
NM_001042723.2:c.14370G=	NP_001036188.1:p.Trp4790=