Canonical Allele Identifier: CA405692558
Community Standard Title: NM_000540.3(RYR1):c.14868+1G>C
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586003G>C , CM000681.2:g.38586003G>C GRCh38
NC_000019.9:g.39076643G>C , CM000681.1:g.39076643G>C GRCh37
NC_000019.8:g.43768483G>C NCBI36
NG_008866.1:g.157304G>C , LRG_766:g.157304G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14868+1G>C MANE Select NP_000531.2:n.14868+1G>C
ENST00000359596.8:c.14868+1G>C MANE Select ENSP00000352608.2:n.14868+1G>C
NM_000540.2:c.14868+1G>C , LRG_766t1:c.14868+1G>C NP_000531.2:n.14868+1G>C
NM_001042723.1:c.14853+1G>C NP_001036188.1:n.14853+1G>C
NM_001042723.2:c.14853+1G>C NP_001036188.1:n.14853+1G>C
ENST00000355481.8:c.14853+1G>C ENSP00000347667.3:n.14853+1G>C
ENST00000359596.7:c.14868+1G>C ENSP00000352608.2:n.14868+1G>C
ENST00000360985.7:c.14850+1G>C ENSP00000354254.4:n.14850+1G>C
ENST00000593677.2:c.1804+1G>C
ENST00000688602.1:c.3201+1G>C
ENST00000689936.1:c.3173+1G>C
ENST00000692547.1:n.261+1G>C
XM_006723317.1:c.14850+1G>C XP_006723380.1:n.14850+1G>C
XM_006723317.2:c.14850+1G>C XP_006723380.1:n.14850+1G>C
XM_006723319.1:c.14835+1G>C XP_006723382.1:n.14835+1G>C
XM_006723319.2:c.14835+1G>C XP_006723382.1:n.14835+1G>C
XM_011527204.1:c.14865+1G>C XP_011525506.1:n.14865+1G>C
XM_011527205.1:c.14781+1G>C XP_011525507.1:n.14781+1G>C
XM_011527205.2:c.14781+1G>C XP_011525507.1:n.14781+1G>C