Canonical Allele Identifier: CA405692506
Community Standard Title: NM_000540.3(RYR1):c.14860G>C (p.Asp4954His)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585994G>C , CM000681.2:g.38585994G>C GRCh38
NC_000019.9:g.39076634G>C , CM000681.1:g.39076634G>C GRCh37
NC_000019.8:g.43768474G>C NCBI36
NG_008866.1:g.157295G>C , LRG_766:g.157295G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14860G>C MANE Select NP_000531.2:p.Asp4954His
ENST00000359596.8:c.14860G>C MANE Select ENSP00000352608.2:p.Asp4954His
NM_000540.2:c.14860G>C , LRG_766t1:c.14860G>C NP_000531.2:p.Asp4954His
NM_001042723.1:c.14845G>C NP_001036188.1:p.Asp4949His
NM_001042723.2:c.14845G>C NP_001036188.1:p.Asp4949His
ENST00000355481.8:c.14845G>C ENSP00000347667.3:p.Asp4949His
ENST00000359596.7:c.14860G>C ENSP00000352608.2:p.Asp4954His
ENST00000360985.7:c.14842G>C ENSP00000354254.4:p.Asp4948His
ENST00000593677.2:c.1796G>C
ENST00000688602.1:c.3193G>C
ENST00000689936.1:c.3165G>C
ENST00000692547.1:n.253G>C
XM_006723317.1:c.14842G>C XP_006723380.1:p.Asp4948His
XM_006723317.2:c.14842G>C XP_006723380.1:p.Asp4948His
XM_006723319.1:c.14827G>C XP_006723382.1:p.Asp4943His
XM_006723319.2:c.14827G>C XP_006723382.1:p.Asp4943His
XM_011527204.1:c.14857G>C XP_011525506.1:p.Asp4953His
XM_011527205.1:c.14773G>C XP_011525507.1:p.Asp4925His
XM_011527205.2:c.14773G>C XP_011525507.1:p.Asp4925His