Canonical Allele Identifier: CA882055126
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1448208875
gnomAD v3: 19-38584686-C-CTT
gnomAD v4: 19-38584686-C-CTT
MyVariant Identifiers: chr19:g.39075326_39075327insTT (hg19) chr19:g.38584686_38584687insTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584686_38584687insTT , CM000681.2:g.38584686_38584687insTT GRCh38
NC_000019.9:g.39075326_39075327insTT , CM000681.1:g.39075326_39075327insTT GRCh37
NC_000019.8:g.43767166_43767167insTT NCBI36
NG_008866.1:g.155987_155988insTT , LRG_766:g.155987_155988insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1583-257_1583-256insTT
ENST00000688602.1:c.2980-257_2980-256insTT
ENST00000689936.1:c.2952-257_2952-256insTT
ENST00000359596.8:c.14647-257_14647-256insTT MANE Select ENSP00000352608.2:n.14647-257_14647-256insTT
ENST00000355481.8:c.14632-257_14632-256insTT ENSP00000347667.3:n.14632-257_14632-256insTT
ENST00000359596.7:c.14647-257_14647-256insTT ENSP00000352608.2:n.14647-257_14647-256insTT
ENST00000360985.7:c.14629-257_14629-256insTT ENSP00000354254.4:n.14629-257_14629-256insTT
NM_000540.2:c.14647-257_14647-256insTT , LRG_766t1:c.14647-257_14647-256insTT NP_000531.2:n.14647-257_14647-256insTT
NM_001042723.1:c.14632-257_14632-256insTT NP_001036188.1:n.14632-257_14632-256insTT
XM_006723317.1:c.14629-257_14629-256insTT XP_006723380.1:n.14629-257_14629-256insTT
XM_006723319.1:c.14614-257_14614-256insTT XP_006723382.1:n.14614-257_14614-256insTT
XM_011527204.1:c.14644-257_14644-256insTT XP_011525506.1:n.14644-257_14644-256insTT
XM_011527205.1:c.14560-257_14560-256insTT XP_011525507.1:n.14560-257_14560-256insTT
XM_006723317.2:c.14629-257_14629-256insTT XP_006723380.1:n.14629-257_14629-256insTT
XM_006723319.2:c.14614-257_14614-256insTT XP_006723382.1:n.14614-257_14614-256insTT
XM_011527205.2:c.14560-257_14560-256insTT XP_011525507.1:n.14560-257_14560-256insTT
NM_000540.3:c.14647-257_14647-256insTT MANE Select NP_000531.2:n.14647-257_14647-256insTT
NM_001042723.2:c.14632-257_14632-256insTT NP_001036188.1:n.14632-257_14632-256insTT
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