Canonical Allele Identifier: CA405685301
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068823C>A (hg19) chr19:g.38578183C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578183C>A , CM000681.2:g.38578183C>A GRCh38
NC_000019.9:g.39068823C>A , CM000681.1:g.39068823C>A GRCh37
NC_000019.8:g.43760663C>A NCBI36
NG_008866.1:g.149484C>A , LRG_766:g.149484C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1279C>A
ENST00000688602.1:c.2676C>A
ENST00000689936.1:c.2648C>A
ENST00000359596.8:c.14343C>A MANE Select ENSP00000352608.2:p.Phe4781Leu
ENST00000355481.8:c.14328C>A ENSP00000347667.3:p.Phe4776Leu
ENST00000359596.7:c.14343C>A ENSP00000352608.2:p.Phe4781Leu
ENST00000360985.7:c.14325C>A ENSP00000354254.4:p.Phe4775Leu
NM_000540.2:c.14343C>A , LRG_766t1:c.14343C>A NP_000531.2:p.Phe4781Leu
NM_001042723.1:c.14328C>A NP_001036188.1:p.Phe4776Leu
XM_006723317.1:c.14325C>A XP_006723380.1:p.Phe4775Leu
XM_006723319.1:c.14310C>A XP_006723382.1:p.Phe4770Leu
XM_011527204.1:c.14340C>A XP_011525506.1:p.Phe4780Leu
XM_011527205.1:c.14256C>A XP_011525507.1:p.Phe4752Leu
XM_006723317.2:c.14325C>A XP_006723380.1:p.Phe4775Leu
XM_006723319.2:c.14310C>A XP_006723382.1:p.Phe4770Leu
XM_011527205.2:c.14256C>A XP_011525507.1:p.Phe4752Leu
NM_000540.3:c.14343C>A MANE Select NP_000531.2:p.Phe4781Leu
NM_001042723.2:c.14328C>A NP_001036188.1:p.Phe4776Leu
Search 100 bp 5'
Search 100 bp 3'