Canonical Allele Identifier: CA405667322
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38989824G>T (hg19) chr19:g.38499184G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499184G>T , CM000681.2:g.38499184G>T GRCh38
NC_000019.9:g.38989824G>T , CM000681.1:g.38989824G>T GRCh37
NC_000019.8:g.43681664G>T NCBI36
NG_008866.1:g.70485G>T , LRG_766:g.70485G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6968G>T ENSP00000471601.2:p.Trp2323Leu
ENST00000359596.8:c.6968G>T MANE Select ENSP00000352608.2:p.Trp2323Leu
ENST00000355481.8:c.6968G>T ENSP00000347667.3:p.Trp2323Leu
ENST00000359596.7:c.6968G>T ENSP00000352608.2:p.Trp2323Leu
ENST00000360985.7:c.6965G>T ENSP00000354254.4:p.Trp2322Leu
ENST00000594335.5:c.420G>T
NM_000540.2:c.6968G>T , LRG_766t1:c.6968G>T NP_000531.2:p.Trp2323Leu
NM_001042723.1:c.6968G>T NP_001036188.1:p.Trp2323Leu
XM_006723317.1:c.6968G>T XP_006723380.1:p.Trp2323Leu
XM_006723319.1:c.6968G>T XP_006723382.1:p.Trp2323Leu
XM_011527204.1:c.6965G>T XP_011525506.1:p.Trp2322Leu
XM_011527205.1:c.6968G>T XP_011525507.1:p.Trp2323Leu
XM_006723317.2:c.6968G>T XP_006723380.1:p.Trp2323Leu
XM_006723319.2:c.6968G>T XP_006723382.1:p.Trp2323Leu
XM_011527205.2:c.6968G>T XP_011525507.1:p.Trp2323Leu
XR_001753735.1:n.7051G>T
NM_000540.3:c.6968G>T MANE Select NP_000531.2:p.Trp2323Leu
NM_001042723.2:c.6968G>T NP_001036188.1:p.Trp2323Leu
Search 100 bp 5'
Search 100 bp 3'