Canonical Allele Identifier: CA6100516
Community Standard Title: NM_001130144.3(LTBP3):c.2725+16G>A
Gene: LTBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65541584C>T , CM000673.2:g.65541584C>T GRCh38
NC_000011.9:g.65309055C>T , CM000673.1:g.65309055C>T GRCh37
NC_000011.8:g.65065631C>T NCBI36
NG_016437.1:g.21645G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001130144.3:c.2725+16G>A MANE Select NP_001123616.1:n.2725+16G>A
ENST00000301873.11:c.2725+16G>A MANE Select ENSP00000301873.5:n.2725+16G>A
NM_001130144.2:c.2725+16G>A NP_001123616.1:n.2725+16G>A
NM_001164266.1:c.2374+16G>A NP_001157738.1:n.2374+16G>A
NM_021070.4:c.2725+16G>A NP_066548.2:n.2725+16G>A
ENST00000301873.9:c.2725+16G>A ENSP00000301873.5:n.2725+16G>A
ENST00000322147.8:c.2725+16G>A ENSP00000326647.4:n.2725+16G>A
ENST00000526124.1:n.21+16G>A
ENST00000526825.6:c.*1988+16G>A ENSP00000435146.2:n.*1988+16G>A
ENST00000526927.5:c.1676+16G>A
ENST00000526927.6:c.1870+16G>A ENSP00000431219.2:n.1870+16G>A
ENST00000528516.5:c.*2370+16G>A ENSP00000432350.1:n.*2370+16G>A
ENST00000529189.5:c.-267+16G>A ENSP00000434406.1:n.-267+16G>A
ENST00000529582.5:n.439+16G>A
ENST00000529582.6:n.767+16G>A
ENST00000530785.5:c.-267+16G>A ENSP00000434315.1:n.-267+16G>A
ENST00000530866.5:c.2458+16G>A ENSP00000435276.1:n.2458+16G>A
ENST00000530866.6:c.2458+16G>A ENSP00000435276.2:n.2458+16G>A
ENST00000530990.1:n.232+16G>A
ENST00000532932.5:c.1015+16G>A ENSP00000435530.1:n.1015+16G>A
ENST00000536982.5:c.-267+16G>A ENSP00000441912.2:n.-267+16G>A
ENST00000685178.1:n.2397+16G>A
ENST00000688764.1:n.1226+16G>A
ENST00000689505.1:c.2602+16G>A ENSP00000510401.1:n.2602+16G>A
XM_011545032.1:c.2752+16G>A XP_011543334.1:n.2752+16G>A
XM_011545032.2:c.2752+16G>A XP_011543334.1:n.2752+16G>A
XM_011545033.1:c.2752+16G>A XP_011543335.1:n.2752+16G>A
XM_011545033.3:c.2752+16G>A XP_011543335.1:n.2752+16G>A
XR_001747875.2:n.3175+16G>A
XR_949928.1:n.3152+16G>A
XR_949928.3:n.3175+16G>A