Canonical Allele Identifier: CA2736032414

Gene: RYR1

Linked Data

• dbSNP Id: rs2145682427

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517552_38517553del , CM000681.2:g.38517552_38517553del	GRCh38
NC_000019.9:g.39008192_39008193del , CM000681.1:g.39008192_39008193del	GRCh37
NC_000019.8:g.43700032_43700033del	NCBI36
NG_008866.1:g.88853_88854del , LRG_766:g.88853_88854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9818_9819del	ENSP00000471601.2:n.9818_9819del
ENST00000359596.8:c.9879_9880del MANE Select	ENSP00000352608.2:p.Ser3294ArgfsTer16
ENST00000355481.8:c.9879_9880del	ENSP00000347667.3:p.Ser3294ArgfsTer16
ENST00000359596.7:c.9879_9880del	ENSP00000352608.2:p.Ser3294ArgfsTer16
ENST00000360985.7:c.9876_9877del	ENSP00000354254.4:p.Ser3293ArgfsTer16
ENST00000594335.5:c.3281_3282del
ENST00000599547.5:c.686_687del
NM_000540.2:c.9879_9880del , LRG_766t1:c.9879_9880del	NP_000531.2:p.Ser3294ArgfsTer16
NM_001042723.1:c.9879_9880del	NP_001036188.1:p.Ser3294ArgfsTer16
XM_006723317.1:c.9879_9880del	XP_006723380.1:p.Ser3294ArgfsTer16
XM_006723319.1:c.9879_9880del	XP_006723382.1:p.Ser3294ArgfsTer16
XM_011527204.1:c.9876_9877del	XP_011525506.1:p.Ser3293ArgfsTer16
XM_011527205.1:c.9879_9880del	XP_011525507.1:p.Ser3294ArgfsTer16
XM_006723317.2:c.9879_9880del	XP_006723380.1:p.Ser3294ArgfsTer16
XM_006723319.2:c.9879_9880del	XP_006723382.1:p.Ser3294ArgfsTer16
XM_011527205.2:c.9879_9880del	XP_011525507.1:p.Ser3294ArgfsTer16
NM_000540.3:c.9879_9880del MANE Select	NP_000531.2:p.Ser3294ArgfsTer16
NM_001042723.2:c.9879_9880del	NP_001036188.1:p.Ser3294ArgfsTer16