Canonical Allele Identifier: CA2335074412

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543551A= , CM000681.2:g.38543551A=	GRCh38
NC_000019.9:g.39034191A= , CM000681.1:g.39034191A=	GRCh37
NC_000019.8:g.43726031A=	NCBI36
NG_008866.1:g.114852A= , LRG_766:g.114852A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.208A=
ENST00000689936.1:c.190A=
ENST00000359596.8:c.11798A= MANE Select	ENSP00000352608.2:p.Tyr3933=
ENST00000355481.8:c.11783A=	ENSP00000347667.3:p.Tyr3928=
ENST00000359596.7:c.11798A=	ENSP00000352608.2:p.Tyr3933=
ENST00000360985.7:c.11780A=	ENSP00000354254.4:p.Tyr3927=
ENST00000593322.1:c.407A=
ENST00000594335.5:c.5167A=
NM_000540.2:c.11798A= , LRG_766t1:c.11798A=	NP_000531.2:p.Tyr3933=
NM_001042723.1:c.11783A=	NP_001036188.1:p.Tyr3928=
XM_006723317.1:c.11780A=	XP_006723380.1:p.Tyr3927=
XM_006723319.1:c.11765A=	XP_006723382.1:p.Tyr3922=
XM_011527204.1:c.11795A=	XP_011525506.1:p.Tyr3932=
XM_011527205.1:c.11798A=	XP_011525507.1:p.Tyr3933=
XM_006723317.2:c.11780A=	XP_006723380.1:p.Tyr3927=
XM_006723319.2:c.11765A=	XP_006723382.1:p.Tyr3922=
XM_011527205.2:c.11798A=	XP_011525507.1:p.Tyr3933=
NM_000540.3:c.11798A= MANE Select	NP_000531.2:p.Tyr3933=
NM_001042723.2:c.11783A=	NP_001036188.1:p.Tyr3928=