Canonical Allele Identifier: CA2335084784

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565285G= , CM000681.2:g.38565285G=	GRCh38
NC_000019.9:g.39055925G= , CM000681.1:g.39055925G=	GRCh37
NC_000019.8:g.43747765G=	NCBI36
NG_008866.1:g.136586G= , LRG_766:g.136586G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1361G=
ENST00000689936.1:c.1343G=
ENST00000359596.8:c.12951G= MANE Select	ENSP00000352608.2:p.Val4317=
ENST00000355481.8:c.12936G=	ENSP00000347667.3:p.Val4312=
ENST00000359596.7:c.12951G=	ENSP00000352608.2:p.Val4317=
ENST00000360985.7:c.12933G=	ENSP00000354254.4:p.Val4311=
NM_000540.2:c.12951G= , LRG_766t1:c.12951G=	NP_000531.2:p.Val4317=
NM_001042723.1:c.12936G=	NP_001036188.1:p.Val4312=
XM_006723317.1:c.12933G=	XP_006723380.1:p.Val4311=
XM_006723319.1:c.12918G=	XP_006723382.1:p.Val4306=
XM_011527204.1:c.12948G=	XP_011525506.1:p.Val4316=
XM_011527205.1:c.12951G=	XP_011525507.1:p.Val4317=
XM_006723317.2:c.12933G=	XP_006723380.1:p.Val4311=
XM_006723319.2:c.12918G=	XP_006723382.1:p.Val4306=
XM_011527205.2:c.12951G=	XP_011525507.1:p.Val4317=
NM_000540.3:c.12951G= MANE Select	NP_000531.2:p.Val4317=
NM_001042723.2:c.12936G=	NP_001036188.1:p.Val4312=