Canonical Allele Identifier: CA405682205
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063874G>A (hg19) chr19:g.38573234G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573234G>A , CM000681.2:g.38573234G>A GRCh38
NC_000019.9:g.39063874G>A , CM000681.1:g.39063874G>A GRCh37
NC_000019.8:g.43755714G>A NCBI36
NG_008866.1:g.144535G>A , LRG_766:g.144535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.992G>A
ENST00000688602.1:c.2389G>A
ENST00000689936.1:c.2361G>A
ENST00000359596.8:c.14056G>A MANE Select ENSP00000352608.2:p.Gly4686Ser
ENST00000355481.8:c.14041G>A ENSP00000347667.3:p.Gly4681Ser
ENST00000359596.7:c.14056G>A ENSP00000352608.2:p.Gly4686Ser
ENST00000360985.7:c.14038G>A ENSP00000354254.4:p.Gly4680Ser
NM_000540.2:c.14056G>A , LRG_766t1:c.14056G>A NP_000531.2:p.Gly4686Ser
NM_001042723.1:c.14041G>A NP_001036188.1:p.Gly4681Ser
XM_006723317.1:c.14038G>A XP_006723380.1:p.Gly4680Ser
XM_006723319.1:c.14023G>A XP_006723382.1:p.Gly4675Ser
XM_011527204.1:c.14053G>A XP_011525506.1:p.Gly4685Ser
XM_011527205.1:c.13969G>A XP_011525507.1:p.Gly4657Ser
XM_006723317.2:c.14038G>A XP_006723380.1:p.Gly4680Ser
XM_006723319.2:c.14023G>A XP_006723382.1:p.Gly4675Ser
XM_011527205.2:c.13969G>A XP_011525507.1:p.Gly4657Ser
NM_000540.3:c.14056G>A MANE Select NP_000531.2:p.Gly4686Ser
NM_001042723.2:c.14041G>A NP_001036188.1:p.Gly4681Ser
Search 100 bp 5'
Search 100 bp 3'