Canonical Allele Identifier: CA2335092456

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580397G= , CM000681.2:g.38580397G=	GRCh38
NC_000019.9:g.39071037G= , CM000681.1:g.39071037G=	GRCh37
NC_000019.8:g.43762877G=	NCBI36
NG_008866.1:g.151698G= , LRG_766:g.151698G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1475G=
ENST00000688602.1:c.2872G=
ENST00000689936.1:c.2844G=
ENST00000359596.8:c.14539G= MANE Select	ENSP00000352608.2:p.Val4847=
ENST00000355481.8:c.14524G=	ENSP00000347667.3:p.Val4842=
ENST00000359596.7:c.14539G=	ENSP00000352608.2:p.Val4847=
ENST00000360985.7:c.14521G=	ENSP00000354254.4:p.Val4841=
NM_000540.2:c.14539G= , LRG_766t1:c.14539G=	NP_000531.2:p.Val4847=
NM_001042723.1:c.14524G=	NP_001036188.1:p.Val4842=
XM_006723317.1:c.14521G=	XP_006723380.1:p.Val4841=
XM_006723319.1:c.14506G=	XP_006723382.1:p.Val4836=
XM_011527204.1:c.14536G=	XP_011525506.1:p.Val4846=
XM_011527205.1:c.14452G=	XP_011525507.1:p.Val4818=
XM_006723317.2:c.14521G=	XP_006723380.1:p.Val4841=
XM_006723319.2:c.14506G=	XP_006723382.1:p.Val4836=
XM_011527205.2:c.14452G=	XP_011525507.1:p.Val4818=
NM_000540.3:c.14539G= MANE Select	NP_000531.2:p.Val4847=
NM_001042723.2:c.14524G=	NP_001036188.1:p.Val4842=