Canonical Allele Identifier: CA082762

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502886_38502887delinsAA , CM000681.2:g.38502886_38502887delinsAA	GRCh38
NC_000019.9:g.38993526_38993527delinsAA , CM000681.1:g.38993526_38993527delinsAA	GRCh37
NC_000019.8:g.43685366_43685367delinsAA	NCBI36
NG_008866.1:g.74187_74188delinsAA , LRG_766:g.74187_74188delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7842_7843delinsAA	ENSP00000471601.2:p.Arg2615Ser
ENST00000359596.8:c.7842_7843delinsAA MANE Select	ENSP00000352608.2:p.Arg2615Ser
ENST00000355481.8:c.7842_7843delinsAA	ENSP00000347667.3:p.Arg2615Ser
ENST00000359596.7:c.7842_7843delinsAA	ENSP00000352608.2:p.Arg2615Ser
ENST00000360985.7:c.7839_7840delinsAA	ENSP00000354254.4:p.Arg2614Ser
ENST00000594335.5:c.1294_1295delinsAA
NM_000540.2:c.7842_7843delinsAA , LRG_766t1:c.7842_7843delinsAA	NP_000531.2:p.Arg2615Ser
NM_001042723.1:c.7842_7843delinsAA	NP_001036188.1:p.Arg2615Ser
XM_006723317.1:c.7842_7843delinsAA	XP_006723380.1:p.Arg2615Ser
XM_006723319.1:c.7842_7843delinsAA	XP_006723382.1:p.Arg2615Ser
XM_011527204.1:c.7839_7840delinsAA	XP_011525506.1:p.Arg2614Ser
XM_011527205.1:c.7842_7843delinsAA	XP_011525507.1:p.Arg2615Ser
XM_006723317.2:c.7842_7843delinsAA	XP_006723380.1:p.Arg2615Ser
XM_006723319.2:c.7842_7843delinsAA	XP_006723382.1:p.Arg2615Ser
XM_011527205.2:c.7842_7843delinsAA	XP_011525507.1:p.Arg2615Ser
XR_001753735.1:n.7925_7926delinsAA
NM_000540.3:c.7842_7843delinsAA MANE Select	NP_000531.2:p.Arg2615Ser
NM_001042723.2:c.7842_7843delinsAA	NP_001036188.1:p.Arg2615Ser