Canonical Allele Identifier: CA405685248
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578178-A-C
MyVariant Identifiers: chr19:g.39068818A>C (hg19) chr19:g.38578178A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578178A>C , CM000681.2:g.38578178A>C GRCh38
NC_000019.9:g.39068818A>C , CM000681.1:g.39068818A>C GRCh37
NC_000019.8:g.43760658A>C NCBI36
NG_008866.1:g.149479A>C , LRG_766:g.149479A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1274A>C
ENST00000688602.1:c.2671A>C
ENST00000689936.1:c.2643A>C
ENST00000359596.8:c.14338A>C MANE Select ENSP00000352608.2:p.Lys4780Gln
ENST00000355481.8:c.14323A>C ENSP00000347667.3:p.Lys4775Gln
ENST00000359596.7:c.14338A>C ENSP00000352608.2:p.Lys4780Gln
ENST00000360985.7:c.14320A>C ENSP00000354254.4:p.Lys4774Gln
NM_000540.2:c.14338A>C , LRG_766t1:c.14338A>C NP_000531.2:p.Lys4780Gln
NM_001042723.1:c.14323A>C NP_001036188.1:p.Lys4775Gln
XM_006723317.1:c.14320A>C XP_006723380.1:p.Lys4774Gln
XM_006723319.1:c.14305A>C XP_006723382.1:p.Lys4769Gln
XM_011527204.1:c.14335A>C XP_011525506.1:p.Lys4779Gln
XM_011527205.1:c.14251A>C XP_011525507.1:p.Lys4751Gln
XM_006723317.2:c.14320A>C XP_006723380.1:p.Lys4774Gln
XM_006723319.2:c.14305A>C XP_006723382.1:p.Lys4769Gln
XM_011527205.2:c.14251A>C XP_011525507.1:p.Lys4751Gln
NM_000540.3:c.14338A>C MANE Select NP_000531.2:p.Lys4780Gln
NM_001042723.2:c.14323A>C NP_001036188.1:p.Lys4775Gln
Search 100 bp 5'
Search 100 bp 3'