Canonical Allele Identifier: CA2335094978

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585044C= , CM000681.2:g.38585044C=	GRCh38
NC_000019.9:g.39075684C= , CM000681.1:g.39075684C=	GRCh37
NC_000019.8:g.43767524C=	NCBI36
NG_008866.1:g.156345C= , LRG_766:g.156345C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1684C=
ENST00000688602.1:c.3081C=
ENST00000689936.1:c.3053C=
ENST00000692547.1:n.141C=
ENST00000359596.8:c.14748C= MANE Select	ENSP00000352608.2:p.Val4916=
ENST00000355481.8:c.14733C=	ENSP00000347667.3:p.Val4911=
ENST00000359596.7:c.14748C=	ENSP00000352608.2:p.Val4916=
ENST00000360985.7:c.14730C=	ENSP00000354254.4:p.Val4910=
NM_000540.2:c.14748C= , LRG_766t1:c.14748C=	NP_000531.2:p.Val4916=
NM_001042723.1:c.14733C=	NP_001036188.1:p.Val4911=
XM_006723317.1:c.14730C=	XP_006723380.1:p.Val4910=
XM_006723319.1:c.14715C=	XP_006723382.1:p.Val4905=
XM_011527204.1:c.14745C=	XP_011525506.1:p.Val4915=
XM_011527205.1:c.14661C=	XP_011525507.1:p.Val4887=
XM_006723317.2:c.14730C=	XP_006723380.1:p.Val4910=
XM_006723319.2:c.14715C=	XP_006723382.1:p.Val4905=
XM_011527205.2:c.14661C=	XP_011525507.1:p.Val4887=
NM_000540.3:c.14748C= MANE Select	NP_000531.2:p.Val4916=
NM_001042723.2:c.14733C=	NP_001036188.1:p.Val4911=