Canonical Allele Identifier: CA920105556

Gene: RYR1

Linked Data

• dbSNP Id: rs1555784471

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502754_38502755insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.2:g.38502754_38502755insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993394_38993395insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , CM000681.1:g.38993394_38993395insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685234_43685235insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NCBI36
NG_008866.1:g.74055_74056insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , LRG_766:g.74055_74056insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000471601.2:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGG...
ENST00000359596.8:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG MANE Select	ENSP00000352608.2:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGG...
ENST00000355481.8:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000347667.3:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGG...
ENST00000359596.7:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000352608.2:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGG...
ENST00000360985.7:c.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	ENSP00000354254.4:n.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGG...
ENST00000594335.5:c.1287+27_1287+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.2:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG , LRG_766t1:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NP_000531.2:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGG...
NM_001042723.1:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723317.1:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723319.1:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_011527204.1:c.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_011525506.1:n.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_011527205.1:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723317.2:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_006723319.2:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XM_011527205.2:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...
XR_001753735.1:n.7918+27_7918+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.3:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG MANE Select	NP_000531.2:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGG...
NM_001042723.2:c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCA...