Canonical Allele Identifier: CA2739276739

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2911977
• ClinVar RCV Id: RCV003757063

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38455542_38455543delinsAA , CM000681.2:g.38455542_38455543delinsAA	GRCh38
NC_000019.9:g.38946182_38946183delinsAA , CM000681.1:g.38946182_38946183delinsAA	GRCh37
NC_000019.8:g.43638022_43638023delinsAA	NCBI36
NG_008866.1:g.26843_26844delinsAA , LRG_766:g.26843_26844delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1668_1669delinsAA	ENSP00000471601.2:p.Ser557Thr
ENST00000359596.8:c.1668_1669delinsAA MANE Select	ENSP00000352608.2:p.Ser557Thr
ENST00000355481.8:c.1668_1669delinsAA	ENSP00000347667.3:p.Ser557Thr
ENST00000359596.7:c.1668_1669delinsAA	ENSP00000352608.2:p.Ser557Thr
ENST00000360985.7:c.1668_1669delinsAA	ENSP00000354254.4:p.Ser557Thr
NM_000540.2:c.1668_1669delinsAA , LRG_766t1:c.1668_1669delinsAA	NP_000531.2:p.Ser557Thr
NM_001042723.1:c.1668_1669delinsAA	NP_001036188.1:p.Ser557Thr
XM_006723317.1:c.1668_1669delinsAA	XP_006723380.1:p.Ser557Thr
XM_006723319.1:c.1668_1669delinsAA	XP_006723382.1:p.Ser557Thr
XM_011527204.1:c.1665_1666delinsAA	XP_011525506.1:p.Ser556Thr
XM_011527205.1:c.1668_1669delinsAA	XP_011525507.1:p.Ser557Thr
XM_006723317.2:c.1668_1669delinsAA	XP_006723380.1:p.Ser557Thr
XM_006723319.2:c.1668_1669delinsAA	XP_006723382.1:p.Ser557Thr
XM_011527205.2:c.1668_1669delinsAA	XP_011525507.1:p.Ser557Thr
XR_001753735.1:n.1751_1752delinsAA
NM_000540.3:c.1668_1669delinsAA MANE Select	NP_000531.2:p.Ser557Thr
NM_001042723.2:c.1668_1669delinsAA	NP_001036188.1:p.Ser557Thr