Canonical Allele Identifier: CA059964
Community Standard Title: NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38566975C>T , CM000681.2:g.38566975C>T GRCh38
NC_000019.9:g.39057615C>T , CM000681.1:g.39057615C>T GRCh37
NC_000019.8:g.43749455C>T NCBI36
NG_008866.1:g.138276C>T , LRG_766:g.138276C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.13502C>T MANE Select NP_000531.2:p.Pro4501Leu
ENST00000359596.8:c.13502C>T MANE Select ENSP00000352608.2:p.Pro4501Leu
NM_000540.2:c.13502C>T , LRG_766t1:c.13502C>T NP_000531.2:p.Pro4501Leu
NM_001042723.1:c.13487C>T NP_001036188.1:p.Pro4496Leu
NM_001042723.2:c.13487C>T NP_001036188.1:p.Pro4496Leu
ENST00000355481.8:c.13487C>T ENSP00000347667.3:p.Pro4496Leu
ENST00000359596.7:c.13502C>T ENSP00000352608.2:p.Pro4501Leu
ENST00000360985.7:c.13484C>T ENSP00000354254.4:p.Pro4495Leu
ENST00000593677.1:c.49C>T
ENST00000593677.2:c.438C>T
ENST00000688602.1:c.1848-798C>T
ENST00000689936.1:c.1894C>T
XM_006723317.1:c.13484C>T XP_006723380.1:p.Pro4495Leu
XM_006723317.2:c.13484C>T XP_006723380.1:p.Pro4495Leu
XM_006723319.1:c.13469C>T XP_006723382.1:p.Pro4490Leu
XM_006723319.2:c.13469C>T XP_006723382.1:p.Pro4490Leu
XM_011527204.1:c.13499C>T XP_011525506.1:p.Pro4500Leu
XM_011527205.1:c.13502C>T XP_011525507.1:p.Pro4501Leu
XM_011527205.2:c.13502C>T XP_011525507.1:p.Pro4501Leu