Canonical Allele Identifier: CA2335084815

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565328G= , CM000681.2:g.38565328G=	GRCh38
NC_000019.9:g.39055968G= , CM000681.1:g.39055968G=	GRCh37
NC_000019.8:g.43747808G=	NCBI36
NG_008866.1:g.136629G= , LRG_766:g.136629G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1404G=
ENST00000689936.1:c.1386G=
ENST00000359596.8:c.12994G= MANE Select	ENSP00000352608.2:p.Val4332=
ENST00000355481.8:c.12979G=	ENSP00000347667.3:p.Val4327=
ENST00000359596.7:c.12994G=	ENSP00000352608.2:p.Val4332=
ENST00000360985.7:c.12976G=	ENSP00000354254.4:p.Val4326=
NM_000540.2:c.12994G= , LRG_766t1:c.12994G=	NP_000531.2:p.Val4332=
NM_001042723.1:c.12979G=	NP_001036188.1:p.Val4327=
XM_006723317.1:c.12976G=	XP_006723380.1:p.Val4326=
XM_006723319.1:c.12961G=	XP_006723382.1:p.Val4321=
XM_011527204.1:c.12991G=	XP_011525506.1:p.Val4331=
XM_011527205.1:c.12994G=	XP_011525507.1:p.Val4332=
XM_006723317.2:c.12976G=	XP_006723380.1:p.Val4326=
XM_006723319.2:c.12961G=	XP_006723382.1:p.Val4321=
XM_011527205.2:c.12994G=	XP_011525507.1:p.Val4332=
NM_000540.3:c.12994G= MANE Select	NP_000531.2:p.Val4332=
NM_001042723.2:c.12979G=	NP_001036188.1:p.Val4327=