Canonical Allele Identifier: CA2584898027

Gene: RYR1

Linked Data

• gnomAD v4: 19-38486194-A-AATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38486194_38486195insATGG , CM000681.2:g.38486194_38486195insATGG	GRCh38
NC_000019.9:g.38976834_38976835insATGG , CM000681.1:g.38976834_38976835insATGG	GRCh37
NC_000019.8:g.43668674_43668675insATGG	NCBI36
NG_008866.1:g.57495_57496insATGG , LRG_766:g.57495_57496insATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.5539_5540insATGG	ENSP00000471601.2:p.Thr1847AsnfsTer12
ENST00000359596.8:c.5539_5540insATGG MANE Select	ENSP00000352608.2:p.Thr1847AsnfsTer12
ENST00000355481.8:c.5539_5540insATGG	ENSP00000347667.3:p.Thr1847AsnfsTer12
ENST00000359596.7:c.5539_5540insATGG	ENSP00000352608.2:p.Thr1847AsnfsTer12
ENST00000360985.7:c.5536_5537insATGG	ENSP00000354254.4:p.Thr1846AsnfsTer12
NM_000540.2:c.5539_5540insATGG , LRG_766t1:c.5539_5540insATGG	NP_000531.2:p.Thr1847AsnfsTer12
NM_001042723.1:c.5539_5540insATGG	NP_001036188.1:p.Thr1847AsnfsTer12
XM_006723317.1:c.5539_5540insATGG	XP_006723380.1:p.Thr1847AsnfsTer12
XM_006723319.1:c.5539_5540insATGG	XP_006723382.1:p.Thr1847AsnfsTer12
XM_011527204.1:c.5536_5537insATGG	XP_011525506.1:p.Thr1846AsnfsTer12
XM_011527205.1:c.5539_5540insATGG	XP_011525507.1:p.Thr1847AsnfsTer12
XM_006723317.2:c.5539_5540insATGG	XP_006723380.1:p.Thr1847AsnfsTer12
XM_006723319.2:c.5539_5540insATGG	XP_006723382.1:p.Thr1847AsnfsTer12
XM_011527205.2:c.5539_5540insATGG	XP_011525507.1:p.Thr1847AsnfsTer12
XR_001753735.1:n.5622_5623insATGG
NM_000540.3:c.5539_5540insATGG MANE Select	NP_000531.2:p.Thr1847AsnfsTer12
NM_001042723.2:c.5539_5540insATGG	NP_001036188.1:p.Thr1847AsnfsTer12