Canonical Allele Identifier: CA304637513
Community Standard Title: NM_004793.4(LONP1):c.638+336A>T
Gene: LONP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5712798T>A , CM000681.2:g.5712798T>A GRCh38
NC_000019.9:g.5712809T>A , CM000681.1:g.5712809T>A GRCh37
NC_000019.8:g.5663809T>A NCBI36
NG_033142.1:g.12655A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004793.4:c.638+336A>T MANE Select NP_004784.2:n.638+336A>T
ENST00000360614.8:c.638+336A>T MANE Select ENSP00000353826.2:n.638+336A>T
NM_001276479.1:c.446+336A>T NP_001263408.1:n.446+336A>T
NM_001276479.2:c.446+336A>T NP_001263408.1:n.446+336A>T
NM_001276480.1:c.50+336A>T NP_001263409.1:n.50+336A>T
NM_004793.3:c.638+336A>T NP_004784.2:n.638+336A>T
NR_076392.1:n.462+336A>T
NR_076392.2:n.443+336A>T
ENST00000360614.7:c.638+336A>T ENSP00000353826.2:n.638+336A>T
ENST00000540670.6:c.50+336A>T ENSP00000441523.1:n.50+336A>T
ENST00000585374.5:c.296+336A>T ENSP00000465585.1:n.296+336A>T
ENST00000586617.1:c.201-848A>T ENSP00000468385.1:n.201-848A>T
ENST00000587365.1:c.430-330A>T ENSP00000468114.1:n.430-330A>T
ENST00000587552.5:n.310+336A>T
ENST00000590558.5:c.377+336A>T ENSP00000467808.1:n.377+336A>T
ENST00000590729.5:c.296+336A>T ENSP00000465139.1:n.296+336A>T
ENST00000593119.5:c.446+336A>T ENSP00000468541.1:n.446+336A>T
XM_011528441.1:c.638+336A>T XP_011526743.1:n.638+336A>T
XM_011528441.3:c.638+336A>T XP_011526743.1:n.638+336A>T