Canonical Allele Identifier: CA995717624

Gene: RYR1

Linked Data

• dbSNP Id: rs1970207974
• gnomAD v3: 19-38502758-G-GGGGCAGGGGCAGGGGCAA
• gnomAD v4: 19-38502758-G-GGGGCAGGGGCAGGGGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502775_38502776insAGGGCAGGGGCAGGGGCA , CM000681.2:g.38502775_38502776insAGGGCAGGGGCAGGGGCA	GRCh38
NC_000019.9:g.38993415_38993416insAGGGCAGGGGCAGGGGCA , CM000681.1:g.38993415_38993416insAGGGCAGGGGCAGGGGCA	GRCh37
NC_000019.8:g.43685255_43685256insAGGGCAGGGGCAGGGGCA	NCBI36
NG_008866.1:g.74076_74077insAGGGCAGGGGCAGGGGCA , LRG_766:g.74076_74077insAGGGCAGGGGCAGGGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	ENSP00000471601.2:n.7835+48_7835+49insAGG...
ENST00000359596.8:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA MANE Select	ENSP00000352608.2:n.7835+48_7835+49insAGG...
ENST00000355481.8:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	ENSP00000347667.3:n.7835+48_7835+49insAGG...
ENST00000359596.7:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	ENSP00000352608.2:n.7835+48_7835+49insAGG...
ENST00000360985.7:c.7832+48_7832+49insAGGGCAGGGGCAGGGGCA	ENSP00000354254.4:n.7832+48_7832+49insAGG...
ENST00000594335.5:c.1287+48_1287+49insAGGGCAGGGGCAGGGGCA
NM_000540.2:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA , LRG_766t1:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	NP_000531.2:n.7835+48_7835+49insAGGGCAGGG...
NM_001042723.1:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	NP_001036188.1:n.7835+48_7835+49insAGGGCA...
XM_006723317.1:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	XP_006723380.1:n.7835+48_7835+49insAGGGCA...
XM_006723319.1:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	XP_006723382.1:n.7835+48_7835+49insAGGGCA...
XM_011527204.1:c.7832+48_7832+49insAGGGCAGGGGCAGGGGCA	XP_011525506.1:n.7832+48_7832+49insAGGGCA...
XM_011527205.1:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	XP_011525507.1:n.7835+48_7835+49insAGGGCA...
XM_006723317.2:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	XP_006723380.1:n.7835+48_7835+49insAGGGCA...
XM_006723319.2:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	XP_006723382.1:n.7835+48_7835+49insAGGGCA...
XM_011527205.2:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	XP_011525507.1:n.7835+48_7835+49insAGGGCA...
XR_001753735.1:n.7918+48_7918+49insAGGGCAGGGGCAGGGGCA
NM_000540.3:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA MANE Select	NP_000531.2:n.7835+48_7835+49insAGGGCAGGG...
NM_001042723.2:c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA	NP_001036188.1:n.7835+48_7835+49insAGGGCA...