Canonical Allele Identifier: CA2335084957

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565559A= , CM000681.2:g.38565559A=	GRCh38
NC_000019.9:g.39056199A= , CM000681.1:g.39056199A=	GRCh37
NC_000019.8:g.43748039A=	NCBI36
NG_008866.1:g.136860A= , LRG_766:g.136860A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.161A=
ENST00000688602.1:c.1635A=
ENST00000689936.1:c.1617A=
ENST00000359596.8:c.13225A= MANE Select	ENSP00000352608.2:p.Ser4409=
ENST00000355481.8:c.13210A=	ENSP00000347667.3:p.Ser4404=
ENST00000359596.7:c.13225A=	ENSP00000352608.2:p.Ser4409=
ENST00000360985.7:c.13207A=	ENSP00000354254.4:p.Ser4403=
NM_000540.2:c.13225A= , LRG_766t1:c.13225A=	NP_000531.2:p.Ser4409=
NM_001042723.1:c.13210A=	NP_001036188.1:p.Ser4404=
XM_006723317.1:c.13207A=	XP_006723380.1:p.Ser4403=
XM_006723319.1:c.13192A=	XP_006723382.1:p.Ser4398=
XM_011527204.1:c.13222A=	XP_011525506.1:p.Ser4408=
XM_011527205.1:c.13225A=	XP_011525507.1:p.Ser4409=
XM_006723317.2:c.13207A=	XP_006723380.1:p.Ser4403=
XM_006723319.2:c.13192A=	XP_006723382.1:p.Ser4398=
XM_011527205.2:c.13225A=	XP_011525507.1:p.Ser4409=
NM_000540.3:c.13225A= MANE Select	NP_000531.2:p.Ser4409=
NM_001042723.2:c.13210A=	NP_001036188.1:p.Ser4404=