Canonical Allele Identifier: CA405684250
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068574G>C (hg19) chr19:g.38577934G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577934G>C , CM000681.2:g.38577934G>C GRCh38
NC_000019.9:g.39068574G>C , CM000681.1:g.39068574G>C GRCh37
NC_000019.8:g.43760414G>C NCBI36
NG_008866.1:g.149235G>C , LRG_766:g.149235G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1125G>C
ENST00000688602.1:c.2522G>C
ENST00000689936.1:c.2494G>C
ENST00000359596.8:c.14189G>C MANE Select ENSP00000352608.2:p.Gly4730Ala
ENST00000355481.8:c.14174G>C ENSP00000347667.3:p.Gly4725Ala
ENST00000359596.7:c.14189G>C ENSP00000352608.2:p.Gly4730Ala
ENST00000360985.7:c.14171G>C ENSP00000354254.4:p.Gly4724Ala
NM_000540.2:c.14189G>C , LRG_766t1:c.14189G>C NP_000531.2:p.Gly4730Ala
NM_001042723.1:c.14174G>C NP_001036188.1:p.Gly4725Ala
XM_006723317.1:c.14171G>C XP_006723380.1:p.Gly4724Ala
XM_006723319.1:c.14156G>C XP_006723382.1:p.Gly4719Ala
XM_011527204.1:c.14186G>C XP_011525506.1:p.Gly4729Ala
XM_011527205.1:c.14102G>C XP_011525507.1:p.Gly4701Ala
XM_006723317.2:c.14171G>C XP_006723380.1:p.Gly4724Ala
XM_006723319.2:c.14156G>C XP_006723382.1:p.Gly4719Ala
XM_011527205.2:c.14102G>C XP_011525507.1:p.Gly4701Ala
NM_000540.3:c.14189G>C MANE Select NP_000531.2:p.Gly4730Ala
NM_001042723.2:c.14174G>C NP_001036188.1:p.Gly4725Ala
Search 100 bp 5'
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