Canonical Allele Identifier: CA2584900038

Gene: RYR1

Linked Data

• gnomAD v4: 19-38499726-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499726_38499727insCG , CM000681.2:g.38499726_38499727insCG	GRCh38
NC_000019.9:g.38990366_38990367insCG , CM000681.1:g.38990366_38990367insCG	GRCh37
NC_000019.8:g.43682206_43682207insCG	NCBI36
NG_008866.1:g.71027_71028insCG , LRG_766:g.71027_71028insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7119_7120insCG	ENSP00000471601.2:p.Ser2374ArgfsTer?
ENST00000359596.8:c.7119_7120insCG MANE Select	ENSP00000352608.2:p.Ser2374ArgfsTer?
ENST00000355481.8:c.7119_7120insCG	ENSP00000347667.3:p.Ser2374ArgfsTer?
ENST00000359596.7:c.7119_7120insCG	ENSP00000352608.2:p.Ser2374ArgfsTer?
ENST00000360985.7:c.7116_7117insCG	ENSP00000354254.4:p.Ser2373ArgfsTer?
ENST00000594335.5:c.571_572insCG
NM_000540.2:c.7119_7120insCG , LRG_766t1:c.7119_7120insCG	NP_000531.2:p.Ser2374ArgfsTer?
NM_001042723.1:c.7119_7120insCG	NP_001036188.1:p.Ser2374ArgfsTer?
XM_006723317.1:c.7119_7120insCG	XP_006723380.1:p.Ser2374ArgfsTer?
XM_006723319.1:c.7119_7120insCG	XP_006723382.1:p.Ser2374ArgfsTer?
XM_011527204.1:c.7116_7117insCG	XP_011525506.1:p.Ser2373ArgfsTer?
XM_011527205.1:c.7119_7120insCG	XP_011525507.1:p.Ser2374ArgfsTer?
XM_006723317.2:c.7119_7120insCG	XP_006723380.1:p.Ser2374ArgfsTer?
XM_006723319.2:c.7119_7120insCG	XP_006723382.1:p.Ser2374ArgfsTer?
XM_011527205.2:c.7119_7120insCG	XP_011525507.1:p.Ser2374ArgfsTer?
XR_001753735.1:n.7202_7203insCG
NM_000540.3:c.7119_7120insCG MANE Select	NP_000531.2:p.Ser2374ArgfsTer?
NM_001042723.2:c.7119_7120insCG	NP_001036188.1:p.Ser2374ArgfsTer?